{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T17:05:21Z","timestamp":1770915921600,"version":"3.50.1"},"reference-count":206,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2024,2,29]],"date-time":"2024-02-29T00:00:00Z","timestamp":1709164800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>There are a variety of rare hematologic malignancies and germline predispositions syndromes that occur in children and adolescent young adults (AYAs). These entities are important to recognize, as an accurate diagnosis is essential for risk assessment, prognostication, and treatment. This descriptive review summarizes rare hematologic malignancies, myelodysplastic neoplasms, and germline predispositions syndromes that occur in children and AYAs. We discuss the unique biology, characteristic genomic aberrations, rare presentations, diagnostic challenges, novel treatments, and outcomes associated with these rare entities.<\/jats:p>","DOI":"10.3390\/cancers16050997","type":"journal-article","created":{"date-parts":[[2024,2,29]],"date-time":"2024-02-29T08:13:44Z","timestamp":1709194424000},"page":"997","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Rare Hematologic Malignancies and Pre-Leukemic Entities in Children and Adolescents Young Adults"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8875-797X","authenticated-orcid":false,"given":"Amber","family":"Brown","sequence":"first","affiliation":[{"name":"Division of Pediatric Hematology, Oncology and Stem Cell Transplant, Department of Pediatrics, Riley Hospital for Children, 705 Riley Hospital Drive, Indianapolis, IN 46202, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandeep","family":"Batra","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology, Oncology and Stem Cell Transplant, Department of Pediatrics, Riley Hospital for Children, 705 Riley Hospital Drive, Indianapolis, IN 46202, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,2,29]]},"reference":[{"key":"ref_1","unstructured":"Orkin, S.H., Nathan, D.G., Ginsburg, D., Look, A.T., Fisher, D.E., and Lux, S. (2014). Nathan and Oski\u2019s Hematology and Oncology of Infancy and Childhood, Elsevier Health Sciences."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1703","DOI":"10.1038\/s41375-022-01613-1","article-title":"The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic\/Dendritic Neoplasms","volume":"36","author":"Khoury","year":"2022","journal-title":"Leukemia"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"7594","DOI":"10.1200\/JCO.2005.01.7038","article-title":"Prognostic factors and life expectancy in myelodysplastic syndromes classified according to WHO criteria: A basis for clinical decision making","volume":"23","author":"Malcovati","year":"2005","journal-title":"J. Clin. Oncol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1016\/j.cll.2023.06.005","article-title":"Childhood Myelodysplastic Syndrome","volume":"43","author":"Chisholm","year":"2023","journal-title":"Clin. Lab. Med."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1038\/leu.2016.342","article-title":"Mutational landscape in children with myelodysplastic syndromes is distinct from adults: Specific somatic drivers and novel germline variants","volume":"31","author":"Pastor","year":"2017","journal-title":"Leukemia"},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Marques, F.K., and Sabino, A.P. (2022). Myelodysplastic neoplasms: An overview on diagnosis, risk-stratification, molecular pathogenesis, and treatment. Biomed. Pharmacother., 156.","DOI":"10.1016\/j.biopha.2022.113905"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1997","DOI":"10.1182\/blood-2002-11-3444","article-title":"Refractory anemia in childhood: A retrospective analysis of 67 patients with particular reference to monosomy 7","volume":"102","author":"Kardos","year":"2003","journal-title":"Blood"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1923","DOI":"10.1038\/leu.2013.81","article-title":"Applicability of a reproducible flow cytometry scoring system in the diagnosis of refractory cytopenia of childhood","volume":"27","author":"Aalbers","year":"2013","journal-title":"Leukemia"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"315","DOI":"10.3324\/haematol.2014.107706","article-title":"Bone marrow immunophenotyping by flow cytometry in refractory cytopenia of childhood","volume":"100","author":"Aalbers","year":"2015","journal-title":"Haematologica"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1093\/ajcp\/aqy007","article-title":"Evaluation of the Utility of Bone Marrow Morphology and Ancillary Studies in Pediatric Patients Under Surveillance for Myelodysplastic Syndrome","volume":"149","author":"Chisholm","year":"2018","journal-title":"Am. J. Clin. Pathol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1038\/leu.2013.336","article-title":"Landscape of genetic lesions in 944 patients with myelodysplastic syndromes","volume":"28","author":"Haferlach","year":"2014","journal-title":"Leukemia"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"2454","DOI":"10.1182\/blood-2012-03-420489","article-title":"Revised international prognostic scoring system for myelodysplastic syndromes","volume":"120","author":"Greenberg","year":"2012","journal-title":"Blood"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"2008","DOI":"10.1038\/sj.leu.2403489","article-title":"The International Prognostic Scoring System (IPSS) for childhood myelodysplastic syndrome (MDS) and juvenile myelomonocytic leukemia (JMML)","volume":"18","author":"Hasle","year":"2004","journal-title":"Leukemia"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1557","DOI":"10.1038\/s41467-017-01590-5","article-title":"The genomic landscape of pediatric myelodysplastic syndromes","volume":"8","author":"Schwartz","year":"2017","journal-title":"Nat. Commun."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1002\/pbc.21874","article-title":"Advanced pediatric myelodysplastic syndromes: Can immunophenotypic characterization of blast cells be a diagnostic and prognostic tool?","volume":"52","author":"Veltroni","year":"2009","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1406","DOI":"10.1182\/blood-2017-09-765214","article-title":"How I treat myelodysplastic syndromes of childhood","volume":"131","author":"Locatelli","year":"2018","journal-title":"Blood"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"3253","DOI":"10.1182\/blood.V84.10.3253.3253","article-title":"The 5q-syndrome","volume":"84","author":"Boultwood","year":"1994","journal-title":"Blood"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/S0165-4608(98)00019-3","article-title":"5q- in a child with refractory anemia with excess blasts: Similarities to 5q- syndrome in adults","volume":"105","author":"Raimondi","year":"1998","journal-title":"Cancer Genet. Cytogenet."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1080\/08880010050120872","article-title":"Clonal monosomy 7 and 5q--in a child with myelodysplastic syndrome","volume":"17","author":"Chantrain","year":"2000","journal-title":"Pediatr. Hematol. Oncol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/0165-4608(94)00177-D","article-title":"5q- syndrome in a child","volume":"80","author":"Uyttebroeck","year":"1995","journal-title":"Cancer Genet. Cytogenet."},{"key":"ref_21","first-page":"430","article-title":"Mast cell leukemia evolved from RAEB-T (5q-syndrome) in a 12 year-old girl","volume":"37","author":"Sugita","year":"1996","journal-title":"Rinsho Ketsueki"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1097\/01.mph.0000210410.48877.15","article-title":"5q- syndrome in a child with slowly progressive pancytopenia: A case report and review of the literature","volume":"28","author":"Pitman","year":"2006","journal-title":"J. Pediatr. Hematol. Oncol."},{"key":"ref_23","first-page":"e17466","article-title":"5q Deletion Myelodysplastic Syndrome in a Young Male Patient","volume":"13","author":"Elkattawy","year":"2021","journal-title":"Cureus"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1002\/ajh.2830310412","article-title":"Interstitial deletion of chromosome 5, del(5q), in a newborn with Down syndrome and an unusual hematologic disorder","volume":"31","author":"Adams","year":"1989","journal-title":"Am. J. Hematol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1111\/j.1442-200X.1992.tb01003.x","article-title":"Myelodysplastic syndrome with partial deletion of the long arm of chromosome 5: First report of a case in a child","volume":"34","author":"Shikano","year":"1992","journal-title":"Acta Paediatr. Jpn."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1038\/251437a0","article-title":"Distinct haematological disorder with deletion of long arm of no. 5 chromosome","volume":"251","author":"Cassiman","year":"1974","journal-title":"Nature"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1182\/blood.V46.4.519.519","article-title":"A new hematologic syndrome with a distinct karyotype: The 5 q--chromosome","volume":"46","author":"Sokal","year":"1975","journal-title":"Blood"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1819","DOI":"10.3324\/haematol.2013.094912","article-title":"What lies beyond del(5q) in myelodysplastic syndrome?","volume":"98","author":"Adema","year":"2013","journal-title":"Haematologica"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1007\/s00277-014-2022-3","article-title":"Myelodysplastic syndromes with 5q deletion: Pathophysiology and role of lenalidomide","volume":"93","author":"Gaballa","year":"2014","journal-title":"Ann. Hematol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"6483","DOI":"10.18632\/oncotarget.14130","article-title":"Recurrent genetic defects on chromosome 5q in myeloid neoplasms","volume":"8","author":"Hosono","year":"2017","journal-title":"Oncotarget"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1016\/0002-9343(79)90449-2","article-title":"Macrocytic anemia, thrombocytosis and nonlobulated megakaryocytes: The 5q-syndrome, a distinct entity","volume":"66","author":"Mahmood","year":"1979","journal-title":"Am. J. Med."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/0165-4608(85)90016-0","article-title":"The 5q-anomaly","volume":"17","author":"Vermaelen","year":"1985","journal-title":"Cancer Genet. Cytogenet."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1456","DOI":"10.1056\/NEJMoa061292","article-title":"Lenalidomide in the myelodysplastic syndrome with chromosome 5q deletion","volume":"355","author":"List","year":"2006","journal-title":"N. Engl. J. Med."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"3765","DOI":"10.1182\/blood-2011-01-330126","article-title":"A randomized phase 3 study of lenalidomide versus placebo in RBC transfusion-dependent patients with Low-\/Intermediate-1-risk myelodysplastic syndromes with del5q","volume":"118","author":"Fenaux","year":"2011","journal-title":"Blood"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1182\/blood-2007-01-068833","article-title":"Phase 2 study of lenalidomide in transfusion-dependent, low-risk, and intermediate-1 risk myelodysplastic syndromes with karyotypes other than deletion 5q","volume":"111","author":"Raza","year":"2008","journal-title":"Blood"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"3947","DOI":"10.1182\/blood-2008-08-175778","article-title":"Efficacy and safety of lenalidomide in intermediate-2 or high-risk myelodysplastic syndromes with 5q deletion: Results of a phase 2 study","volume":"113","author":"Boehrer","year":"2009","journal-title":"Blood"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"963","DOI":"10.3324\/haematol.2010.039669","article-title":"Clinical effect of increasing doses of lenalidomide in high-risk myelodysplastic syndrome and acute myeloid leukemia with chromosome 5 abnormalities","volume":"96","author":"Saft","year":"2011","journal-title":"Haematologica"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"1403","DOI":"10.1038\/leu.2013.26","article-title":"Sequential combination of azacitidine and lenalidomide in del(5q) higher-risk myelodysplastic syndromes or acute myeloid leukemia: A phase I study","volume":"27","author":"Platzbecker","year":"2013","journal-title":"Leukemia"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1038\/leu.2011.284","article-title":"Interest of the association azacitidine-lenalidomide as frontline therapy in high-risk myelodysplasia or acute myeloid leukemia with complex karyotype","volume":"26","author":"Scherman","year":"2012","journal-title":"Leukemia"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"4945","DOI":"10.1182\/blood-2012-06-434639","article-title":"Phase 2 study of the lenalidomide and azacitidine combination in patients with higher-risk myelodysplastic syndromes","volume":"120","author":"Sekeres","year":"2012","journal-title":"Blood"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"5202","DOI":"10.1002\/cncr.24575","article-title":"The heterogeneous prognosis of patients with myelodysplastic syndrome and chromosome 5 abnormalities: How does it relate to the original lenalidomide experience in MDS?","volume":"115","author":"Kantarjian","year":"2009","journal-title":"Cancer"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1762","DOI":"10.3324\/haematol.2009.011528","article-title":"Clonal heterogeneity in the 5q- syndrome: p53 expressing progenitors prevail during lenalidomide treatment and expand at disease progression","volume":"94","author":"Saft","year":"2009","journal-title":"Haematologica"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"e96","DOI":"10.1182\/blood-2011-12-395087","article-title":"Spliceosomal gene aberrations are rare, coexist with oncogenic mutations, and are unlikely to exert a driver effect in childhood MDS and JMML","volume":"119","author":"Hirabayashi","year":"2012","journal-title":"Blood"},{"key":"ref_44","first-page":"69","article-title":"Pediatric Myelodysplastic Syndrome with SF3B1 Mutation","volume":"49","author":"Boles","year":"2023","journal-title":"J. Assoc. Genet. Technol."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1007\/s10147-019-01462-6","article-title":"Genetic abnormalities and pathophysiology of MDS","volume":"24","author":"Hosono","year":"2019","journal-title":"Int. J. Clin. Oncol."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1182\/blood.2020004850","article-title":"SF3B1-mutant MDS as a distinct disease subtype: A proposal from the International Working Group for the Prognosis of MDS","volume":"136","author":"Malcovati","year":"2020","journal-title":"Blood"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1038\/nature10496","article-title":"Frequent pathway mutations of splicing machinery in myelodysplasia","volume":"478","author":"Yoshida","year":"2011","journal-title":"Nature"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"1384","DOI":"10.1056\/NEJMoa1103283","article-title":"Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts","volume":"365","author":"Papaemmanuil","year":"2011","journal-title":"N. Engl. J. Med."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"6239","DOI":"10.1182\/blood-2011-09-377275","article-title":"Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic\/myeloproliferative neoplasms","volume":"118","author":"Malcovati","year":"2011","journal-title":"Blood"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"2447","DOI":"10.1038\/leu.2012.130","article-title":"Emerging roles of the spliceosomal machinery in myelodysplastic syndromes and other hematological disorders","volume":"26","author":"Visconte","year":"2012","journal-title":"Leukemia"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"e467","DOI":"10.1016\/j.clml.2022.01.002","article-title":"Therapeutic Outcomes and Prognostic Impact of Gene Mutations Including TP53 and SF3B1 in Patients with Del(5q) Myelodysplastic Syndromes (MDS)","volume":"22","author":"Chan","year":"2022","journal-title":"Clin. Lymphoma Myeloma Leuk."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"118","DOI":"10.3343\/alm.2015.35.1.118","article-title":"Alteration of the SETBP1 gene and splicing pathway genes SF3B1, U2AF1, and SRSF2 in childhood acute myeloid leukemia","volume":"35","author":"Choi","year":"2015","journal-title":"Ann. Lab. Med."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"2698","DOI":"10.1038\/s41375-021-01273-7","article-title":"SF3B1 as therapeutic target in FLT3\/ITD positive acute myeloid leukemia","volume":"35","author":"Wojtuszkiewicz","year":"2021","journal-title":"Leukemia"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"1747","DOI":"10.1038\/s41375-018-0351-2","article-title":"TP53 mutation status divides myelodysplastic syndromes with complex karyotypes into distinct prognostic subgroups","volume":"33","author":"Haase","year":"2019","journal-title":"Leukemia"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"1549","DOI":"10.1038\/s41591-020-1008-z","article-title":"Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes","volume":"26","author":"Bernard","year":"2020","journal-title":"Nat. Med."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"1578","DOI":"10.1016\/j.leukres.2011.06.027","article-title":"Genetic analysis of TP53 in childhood myelodysplastic syndrome and juvenile myelomonocytic leukemia","volume":"35","author":"Saito","year":"2011","journal-title":"Leuk. Res."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.cancergencyto.2005.11.003","article-title":"Lack of TP53 and FMS gene mutations in children with myelodysplastic syndrome","volume":"166","author":"Jekic","year":"2006","journal-title":"Cancer Genet. Cytogenet."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1002\/gcc.20797","article-title":"Clonal heterogeneity in childhood myelodysplastic syndromes--challenge for the detection of chromosomal imbalances by array-CGH","volume":"49","author":"Praulich","year":"2010","journal-title":"Genes Chromosomes Cancer"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1038\/s41375-021-01444-6","article-title":"Genomic abnormalities of TP53 define distinct risk groups of paediatric B-cell non-Hodgkin lymphoma","volume":"36","author":"Newman","year":"2022","journal-title":"Leukemia"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"5295","DOI":"10.1038\/onc.2014.150","article-title":"Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences","volume":"33","author":"Pugh","year":"2014","journal-title":"Oncogene"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1097\/MOP.0000000000000855","article-title":"Pediatric acute myeloid leukemia: Updates on biology, risk stratification, and therapy","volume":"32","author":"Elgarten","year":"2020","journal-title":"Curr. Opin. Pediatr."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1182\/hematology.2022000358","article-title":"The evolution of targeted therapy in pediatric AML: Gemtuzumab ozogamicin, FLT3\/IDH\/BCL2 inhibitors, and other therapies","volume":"2022","author":"Pommert","year":"2022","journal-title":"Hematol. Am. Soc. Hematol. Educ. Program"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"4827","DOI":"10.1182\/blood-2023-190357","article-title":"Engineering Off-the-Shelf Gamma Delta CAR T Cells for the Treatment of Acute Myeloid Leukemia","volume":"142","author":"Dwivedi","year":"2023","journal-title":"Blood"},{"key":"ref_64","doi-asserted-by":"crossref","unstructured":"Shah, N., Azzi, J., Cooper, B., Deol, A., DiiPersio, J., Koura, D., McClune, B., Muffly, L., Umair Mushtaq, M., and Narayan, R. (2023, January 11). Phase 1\/2 Study of Donor-Derived Anti-CD33 Chimeric Antigen Receptor Expressing T Cells (VCAR33) in Patients with Relapsed or Refractory Acute Myeloid Leukemia after Allogeneic Hematopoietic Cell Transplantation. Proceedings of the ASH Annual Meeting & Exposition, San Diego, CA, USA.","DOI":"10.1182\/blood-2023-180990"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1270843","DOI":"10.3389\/fimmu.2023.1270843","article-title":"Optimization of universal allogeneic CAR-T cells combining CRISPR and transposon-based technologies for treatment of acute myeloid leukemia","volume":"14","author":"Ceballos","year":"2023","journal-title":"Front. Immunol."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1182\/blood-2023-182104","article-title":"Cytokine Release Syndrome Results in Reduced AML Killing By CD123 CAR T Cells","volume":"142","author":"Bhagwat","year":"2023","journal-title":"Blood"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"3444","DOI":"10.1182\/blood-2023-177922","article-title":"Two Players, One Goal: BiTE \u00ae Vs CART Targeting FLT3 in AML","volume":"142","author":"Rohrbacher","year":"2023","journal-title":"Blood"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"e157101","DOI":"10.1172\/JCI157101","article-title":"CBFA2T3-GLIS2 model of pediatric acute megakaryoblastic leukemia identifies FOLR1 as a CAR T cell target","volume":"132","author":"Le","year":"2022","journal-title":"J. Clin. Investig."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"1371","DOI":"10.1111\/j.1349-7006.2012.02303.x","article-title":"Ecotropic viral integration site 1, stem cell self-renewal and leukemogenesis","volume":"103","author":"Kataoka","year":"2012","journal-title":"Cancer Sci."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.cancergen.2019.03.002","article-title":"Deciphering the complexities of MECOM rearrangement-driven chromosomal aberrations","volume":"233\u2013234","author":"Tang","year":"2019","journal-title":"Cancer Genet."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"3890","DOI":"10.1200\/JCO.2010.29.2771","article-title":"Clinical, molecular, and prognostic significance of WHO type inv(3)(q21q26.2)\/t(3;3)(q21;q26.2) and various other 3q abnormalities in acute myeloid leukemia","volume":"28","author":"Lugthart","year":"2010","journal-title":"J. Clin. Oncol."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"4329","DOI":"10.1182\/blood-2007-10-119230","article-title":"High EVI1 levels predict adverse outcome in acute myeloid leukemia: Prevalence of EVI1 overexpression and chromosome 3q26 abnormalities underestimated","volume":"111","author":"Lugthart","year":"2008","journal-title":"Blood"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"2101","DOI":"10.1200\/JCO.2009.26.0646","article-title":"High EVI1 expression predicts outcome in younger adult patients with acute myeloid leukemia and is associated with distinct cytogenetic abnormalities","volume":"28","author":"Lugthart","year":"2010","journal-title":"J. Clin. Oncol."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1002\/gcc.22341","article-title":"Complex chromosomal rearrangements leading to MECOM overexpression are recurrent in myeloid malignancies with various 3q abnormalities","volume":"55","author":"Baldazzi","year":"2016","journal-title":"Genes Chromosomes Cancer"},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1038\/modpathol.2010.210","article-title":"De novo acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2): A clinicopathologic and cytogenetic study of an entity recently added to the WHO classification","volume":"24","author":"Sun","year":"2011","journal-title":"Mod. Pathol."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1182\/blood-2009-11-254441","article-title":"Refinement of cytogenetic classification in acute myeloid leukemia: Determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials","volume":"116","author":"Grimwade","year":"2010","journal-title":"Blood"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"1675","DOI":"10.2217\/fon.15.64","article-title":"3q26\/EVI1 rearrangements in myeloid hemopathies: A cytogenetic review","volume":"11","author":"Basinko","year":"2015","journal-title":"Future Oncol."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1002\/gcc.20532","article-title":"Expression and prognostic significance of different mRNA 5\u2019-end variants of the oncogene EVI1 in 266 patients with de novo AML: EVI1 and MDS1\/EVI1 overexpression both predict short remission duration","volume":"47","author":"Haas","year":"2008","journal-title":"Genes Chromosomes Cancer"},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"942","DOI":"10.1038\/leu.2010.47","article-title":"EVI1 overexpression in distinct subtypes of pediatric acute myeloid leukemia","volume":"24","author":"Balgobind","year":"2010","journal-title":"Leukemia"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1111\/bjh.12444","article-title":"High EVI1 expression is associated with MLL rearrangements and predicts decreased survival in paediatric acute myeloid leukaemia: A report from the children\u2019s oncology group","volume":"162","author":"Ho","year":"2013","journal-title":"Br. J. Haematol."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"e35721","DOI":"10.1097\/MD.0000000000035721","article-title":"A primary pediatric acute myelomonocytic leukemia with t(3;21)(q26;q22): A case report","volume":"102","author":"Duan","year":"2023","journal-title":"Medicine"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1046\/j.1365-2141.1996.d01-1468.x","article-title":"t(3;21)(q26;q22) with AML1 rearrangement in a de novo childhood acute monoblastic leukaemia","volume":"92","author":"Johansson","year":"1996","journal-title":"Br. J. Haematol."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1309\/AJCPZRRL2DGC2ODA","article-title":"Myelodysplastic syndrome\/acute myeloid leukemia with t(3;21)(q26.2;q22) is commonly a therapy-related disease associated with poor outcome","volume":"138","author":"Li","year":"2012","journal-title":"Am. J. Clin. Pathol."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"e30251","DOI":"10.1002\/pbc.30251","article-title":"Pathologic, cytogenetic, and molecular features of acute myeloid leukemia with megakaryocytic differentiation: A report from the Children\u2019s Oncology Group","volume":"70","author":"Chisholm","year":"2023","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"a002204","DOI":"10.1101\/mcs.a002204","article-title":"Identification of novel MECOM gene fusion and personalized therapeutic targets through integrative clinical sequencing in secondary acute myeloid leukemia in a patient with severe congenital neutropenia: A case report and literature review","volume":"4","author":"Connelly","year":"2018","journal-title":"Cold Spring Harb. Mol. Case Stud."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1080\/0284186X.2022.2025611","article-title":"MECOM gene overexpression in pediatric patients with acute myeloid leukemia","volume":"61","author":"Elsherif","year":"2022","journal-title":"Acta Oncol."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1038\/leu.2015.5","article-title":"High expression of EVI1 and MEL1 is a compelling poor prognostic marker of pediatric AML","volume":"29","author":"Jo","year":"2015","journal-title":"Leukemia"},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1111\/bjh.19023","article-title":"A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure","volume":"203","author":"Ammeti","year":"2023","journal-title":"Br. J. Haematol."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1182\/bloodadvances.2018016501","article-title":"MECOM-associated syndrome: A heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia","volume":"2","author":"Germeshausen","year":"2018","journal-title":"Blood Adv."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1007\/s12185-022-03505-7","article-title":"Reduced-intensity conditioning is effective for allogeneic hematopoietic stem cell transplantation in infants with MECOM-associated syndrome","volume":"117","author":"Irie","year":"2023","journal-title":"Int. J. Hematol."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"e55","DOI":"10.3324\/haematol.2017.178723","article-title":"MDS1 and EVI1 complex locus (MECOM): A novel candidate gene for hereditary hematological malignancies","volume":"103","author":"Ripperger","year":"2018","journal-title":"Haematologica"},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1093\/nar\/gkt931","article-title":"The double PHD finger domain of MOZ\/MYST3 induces \u03b1-helical structure of the histone H3 tail to facilitate acetylation and methylation sampling and modification","volume":"42","author":"Dreveny","year":"2014","journal-title":"Nucleic Acids Res."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1111\/imm.12072","article-title":"The MYSTerious MOZ, a histone acetyltransferase with a key role in haematopoiesis","volume":"139","author":"Costa","year":"2013","journal-title":"Immunology"},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1038\/ng0996-33","article-title":"The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB-binding protein","volume":"14","author":"Borrow","year":"1996","journal-title":"Nat. Genet."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1042\/bss0730023","article-title":"MOZ fusion proteins in acute myeloid leukaemia","volume":"73","author":"Troke","year":"2006","journal-title":"Biochem. Soc. Symp."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"3451","DOI":"10.1182\/blood-2021-154052","article-title":"Crebbp Alterations Are Associated with a Poor Prognosis in De Novo AML","volume":"138","author":"Lamble","year":"2021","journal-title":"Blood"},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"2704","DOI":"10.1182\/blood-2013-02-485524","article-title":"Pediatric acute myeloid leukemia with t(8;16)(p11;p13), a distinct clinical and biological entity: A collaborative study by the International-Berlin-Frankfurt-M\u00fcnster AML-study group","volume":"122","author":"Coenen","year":"2013","journal-title":"Blood"},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1038\/s41586-018-0387-5","article-title":"Inhibitors of histone acetyltransferases KAT6A\/B induce senescence and arrest tumour growth","volume":"560","author":"Baell","year":"2018","journal-title":"Nature"},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1182\/blood.V47.5.705.705","article-title":"Chromosomal banding patterns in acute nonlymphocytic leukemia","volume":"47","author":"Rowley","year":"1976","journal-title":"Blood"},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1002\/gcc.20531","article-title":"Identification of a novel and myeloid specific role of the leukemia-associated fusion protein DEK-NUP214 leading to increased protein synthesis","volume":"47","author":"Ageberg","year":"2008","journal-title":"Genes Chromosomes Cancer"},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/j.cancergencyto.2010.08.012","article-title":"The t(6;9)(p22;q34) in myeloid neoplasms: A retrospective study of 16 cases","volume":"203","author":"Gupta","year":"2010","journal-title":"Cancer Genet. Cytogenet."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1111\/ijlh.12641","article-title":"Clinicopathologic and molecular characterization of myeloid neoplasms with isolated t(6;9)(p23;q34)","volume":"39","author":"Visconte","year":"2017","journal-title":"Int. J. Lab. Hematol."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/0165-4608(89)90089-7","article-title":"Translocation t(6;9) occurring in acute myelofibrosis, myelodysplastic syndrome, and acute nonlymphocytic leukemia suggests multipotent stem cell involvement","volume":"42","author":"Cuneo","year":"1989","journal-title":"Cancer Genet. Cytogenet."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"2990","DOI":"10.1182\/blood.V79.11.2990.2990","article-title":"The translocation (6;9) (p23;q34) shows consistent rearrangement of two genes and defines a myeloproliferative disorder with specific clinical features","volume":"79","author":"Soekarman","year":"1992","journal-title":"Blood"},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1038\/s41379-021-00741-w","article-title":"Myelodysplastic syndrome with t(6;9)(p22;q34.1)\/DEK-NUP214 better classified as acute myeloid leukemia? A multicenter study of 107 cases","volume":"34","author":"Fang","year":"2021","journal-title":"Mod. Pathol."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"865","DOI":"10.3324\/haematol.2013.098517","article-title":"t(6;9)(p22;q34)\/DEK-NUP214-rearranged pediatric myeloid leukemia: An international study of 62 patients","volume":"99","author":"Sandahl","year":"2014","journal-title":"Haematologica"},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1111\/bjh.12852","article-title":"Acute myeloid leukaemia (AML) with t(6;9)(p23;q34) is associated with poor outcome in childhood AML regardless of FLT3-ITD status: A report from the Children\u2019s Oncology Group","volume":"166","author":"Tarlock","year":"2014","journal-title":"Br. J. Haematol."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1182\/blood.V97.1.89","article-title":"Prevalence and prognostic significance of Flt3 internal tandem duplication in pediatric acute myeloid leukemia","volume":"97","author":"Meshinchi","year":"2001","journal-title":"Blood"},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"4326","DOI":"10.1182\/blood.V99.12.4326","article-title":"Analysis of FLT3-activating mutations in 979 patients with acute myelogenous leukemia: Association with FAB subtypes and identification of subgroups with poor prognosis","volume":"99","author":"Thiede","year":"2002","journal-title":"Blood"},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1038\/nm.4439","article-title":"The molecular landscape of pediatric acute myeloid leukemia reveals recurrent structural alterations and age-specific mutational interactions","volume":"24","author":"Bolouri","year":"2018","journal-title":"Nat. Med."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"1206","DOI":"10.1002\/cncr.11636","article-title":"Internal tandem duplication and Asp835 mutations of the FMS-like tyrosine kinase 3 (FLT3) gene in acute promyelocytic leukemia","volume":"98","author":"Shih","year":"2003","journal-title":"Cancer"},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1111\/j.1365-2141.2004.04935.x","article-title":"FLT-3 aberrations in acute promyelocytic leukaemia: Clinicopathological associations and prognostic impact","volume":"125","author":"Au","year":"2004","journal-title":"Br. J. Haematol."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"3768","DOI":"10.1182\/blood-2005-04-1746","article-title":"Relationship between FLT3 mutation status, biologic characteristics, and response to targeted therapy in acute promyelocytic leukemia","volume":"106","author":"Gale","year":"2005","journal-title":"Blood"},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1002\/pbc.24122","article-title":"FLT3 mutation status is a predictor of early death in pediatric acute promyelocytic leukemia: A report from the Children\u2019s Oncology Group","volume":"59","author":"Kutny","year":"2012","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"2434","DOI":"10.1182\/blood.V97.8.2434","article-title":"Activating mutation of D835 within the activation loop of FLT3 in human hematologic malignancies","volume":"97","author":"Yamamoto","year":"2001","journal-title":"Blood"},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"3907","DOI":"10.1182\/blood.V96.12.3907","article-title":"Flt3 mutations from patients with acute myeloid leukemia induce transformation of 32D cells mediated by the Ras and STAT5 pathways","volume":"96","author":"Mizuki","year":"2000","journal-title":"Blood"},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"3654","DOI":"10.1182\/blood-2006-03-009233","article-title":"Clinical implications of FLT3 mutations in pediatric AML","volume":"108","author":"Meshinchi","year":"2006","journal-title":"Blood"},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"2023","DOI":"10.1200\/JCO.21.01612","article-title":"Sorafenib in Combination With Standard Chemotherapy for Children With High Allelic Ratio FLT3\/ITD+ Acute Myeloid Leukemia: A Report From the Children\u2019s Oncology Group Protocol AAML1031","volume":"40","author":"Pollard","year":"2022","journal-title":"J. Clin. Oncol."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"1048","DOI":"10.1002\/pbc.25437","article-title":"Sorafenib treatment following hematopoietic stem cell transplant in pediatric FLT3\/ITD acute myeloid leukemia","volume":"62","author":"Tarlock","year":"2015","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1056\/NEJMoa1614359","article-title":"Midostaurin plus Chemotherapy for Acute Myeloid Leukemia with a FLT3 Mutation","volume":"377","author":"Stone","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"1728","DOI":"10.1056\/NEJMoa1902688","article-title":"Gilteritinib or Chemotherapy for Relapsed or Refractory FLT3-Mutated AML","volume":"381","author":"Perl","year":"2019","journal-title":"N. Engl. J. Med."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"4945","DOI":"10.1182\/bloodadvances.2020002904","article-title":"Midostaurin in patients with acute myeloid leukemia and FLT3-TKD mutations: A subanalysis from the RATIFY trial","volume":"4","author":"Voso","year":"2020","journal-title":"Blood Adv."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1182\/blood-2015-05-567859","article-title":"The biology of pediatric acute megakaryoblastic leukemia","volume":"126","author":"Gruber","year":"2015","journal-title":"Blood"},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"1575","DOI":"10.1182\/blood-2015-02-629204","article-title":"Heterogeneous cytogenetic subgroups and outcomes in childhood acute megakaryoblastic leukemia: A retrospective international study","volume":"126","author":"Inaba","year":"2015","journal-title":"Blood"},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"3424","DOI":"10.1182\/blood-2016-01-695551","article-title":"Recurrent abnormalities can be used for risk group stratification in pediatric AMKL: A retrospective intergroup study","volume":"127","author":"Masetti","year":"2016","journal-title":"Blood"},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1002\/gcc.22444","article-title":"Prognostic impact of specific molecular profiles in pediatric acute megakaryoblastic leukemia in non-Down syndrome","volume":"56","author":"Hara","year":"2017","journal-title":"Genes Chromosomes Cancer"},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"e28542","DOI":"10.1002\/pbc.28542","article-title":"TERT promotor variant associated with poor clinical outcome in a patient with novel RBM15-MKL1 fusion-positive pediatric acute megakaryoblastic leukemia","volume":"68","author":"Renzi","year":"2021","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"18","DOI":"10.3892\/mco.2023.2614","article-title":"t(1;7;22)(p13;q21;q13) is a novel 3-way variant of t(1;22)(p13;q13) neonatal acute megakaryoblastic leukemia: A case report","volume":"18","author":"Messiaen","year":"2023","journal-title":"Mol. Clin. Oncol."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1002\/pbc.22765","article-title":"Acute megakaryoblastic leukemia with a four-way variant translocation originating the RBM15-MKL1 fusion gene","volume":"56","author":"Torres","year":"2011","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1038\/ng.3772","article-title":"Pediatric non-Down syndrome acute megakaryoblastic leukemia is characterized by distinct genomic subsets with varying outcomes","volume":"49","author":"Branstetter","year":"2017","journal-title":"Nat. Genet."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/sj.leu.2401639","article-title":"Nineteen cases of the t(1;22)(p13;q13) acute megakaryblastic leukaemia of infants\/children and a review of 39 cases: Report from a t(1;22) study group","volume":"14","author":"Bernstein","year":"2000","journal-title":"Leukemia"},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1007\/s00277-015-2383-2","article-title":"Improved outcome of pediatric patients with acute megakaryoblastic leukemia in the AML-BFM 04 trial","volume":"94","author":"Schweitzer","year":"2015","journal-title":"Ann. Hematol."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1016\/j.ccr.2012.10.007","article-title":"An Inv(16)(p13.3q24.3)-encoded CBFA2T3-GLIS2 fusion protein defines an aggressive subtype of pediatric acute megakaryoblastic leukemia","volume":"22","author":"Gruber","year":"2012","journal-title":"Cancer Cell"},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"3469","DOI":"10.1182\/blood-2012-11-469825","article-title":"CBFA2T3-GLIS2 fusion transcript is a novel common feature in pediatric, cytogenetically normal AML, not restricted to FAB M7 subtype","volume":"121","author":"Masetti","year":"2013","journal-title":"Blood"},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1111\/bjh.15725","article-title":"CBFA2T3-GLIS2-positive acute myeloid leukaemia. A peculiar paediatric entity","volume":"184","author":"Masetti","year":"2019","journal-title":"Br. J. Haematol."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"2077","DOI":"10.1038\/leu.2016.119","article-title":"A recurrent immunophenotype at diagnosis independently identifies high-risk pediatric acute myeloid leukemia: A report from Children\u2019s Oncology Group","volume":"30","author":"Alonzo","year":"2016","journal-title":"Leukemia"},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1158\/1078-0432.CCR-19-1800","article-title":"Comprehensive Transcriptome Profiling of Cryptic CBFA2T3-GLIS2 Fusion-Positive AML Defines Novel Therapeutic Options: A COG and TARGET Pediatric AML Study","volume":"26","author":"Smith","year":"2020","journal-title":"Clin. Cancer Res."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"1584","DOI":"10.1182\/blood-2018-05-849059","article-title":"Prognostic impact of t(16;21)(p11;q22) and t(16;21)(q24;q22) in pediatric AML: A retrospective study by the I-BFM Study Group","volume":"132","author":"Noort","year":"2018","journal-title":"Blood"},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"3157","DOI":"10.1182\/bloodadvances.2019000404","article-title":"Transcriptome analysis offers a comprehensive illustration of the genetic background of pediatric acute myeloid leukemia","volume":"3","author":"Shiba","year":"2019","journal-title":"Blood Adv."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.cancergencyto.2009.08.017","article-title":"Acute myeloid leukemia with t(16;21)(q24;q22) and eosinophilia: Case report and review of the literature","volume":"196","author":"Park","year":"2010","journal-title":"Cancer Genet. Cytogenet."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1007\/s12185-012-1044-7","article-title":"Childhood acute myeloid leukemia with bone marrow eosinophilia caused by t(16;21)(q24;q22)","volume":"95","author":"Kawashima","year":"2012","journal-title":"Int. J. Hematol."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1080\/10428190290006242","article-title":"A pediatric case of secondary leukemia associated with t(16;21)(q24;q22) exhibiting the chimeric AML1-MTG16 gene","volume":"43","author":"Kondoh","year":"2002","journal-title":"Leuk. Lymphoma"},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.cancergencyto.2005.08.005","article-title":"Abnormalities of the long arm of chromosome 21 in 107 patients with hematopoietic disorders: A collaborative retrospective study of the Groupe Fran\u00e7ais de Cytog\u00e9n\u00e9tique H\u00e9matologique","volume":"166","author":"Jeandidier","year":"2006","journal-title":"Cancer Genet. Cytogenet."},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/0165-4608(89)90141-6","article-title":"Cytogenetics of childhood acute nonlymphocytic leukemia","volume":"40","author":"Raimondi","year":"1989","journal-title":"Cancer Genet. Cytogenet."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"1704","DOI":"10.1038\/sj.leu.2401885","article-title":"AML1-MTG16 fusion gene in therapy-related acute leukemia with t(16;21)(q24;q22): Two new cases","volume":"14","author":"Mozziconacci","year":"2000","journal-title":"Leukemia"},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"1319","DOI":"10.1016\/j.leukres.2006.10.010","article-title":"A patient with de novo AML M1 and t(16;21) with karyotype evolution","volume":"31","author":"Zatkova","year":"2007","journal-title":"Leuk. Res."},{"key":"ref_147","first-page":"4833","article-title":"Eastern Cooperative Oncology Group study of the cytochemistry of adult acute myeloid leukemia by correlation of subtypes with response and survival","volume":"41","author":"Bennett","year":"1981","journal-title":"Cancer Res."},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1002\/pbc.20951","article-title":"Comparison of childhood myelodysplastic syndrome, AML FAB M6 or M7, CCG 2891: Report from the Children\u2019s Oncology Group","volume":"49","author":"Barnard","year":"2007","journal-title":"Pediatr Blood Cancer"},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"6000","DOI":"10.1182\/bloodadvances.2020002712","article-title":"Acute erythroid leukemia is enriched in NUP98 fusions: A report from the Children\u2019s Oncology Group","volume":"4","author":"Chisholm","year":"2020","journal-title":"Blood Adv."},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1038\/s41408-022-00746-x","article-title":"Pure (acute) erythroid leukemia: Morphology, immunophenotype, cytogenetics, mutations, treatment details, and survival data among 41 Mayo Clinic cases","volume":"12","author":"Reichard","year":"2022","journal-title":"Blood Cancer J."},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1038\/s41588-019-0375-1","article-title":"Genomic subtyping and therapeutic targeting of acute erythroleukemia","volume":"51","author":"Iacobucci","year":"2019","journal-title":"Nat. Genet."},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1038\/leu.2016.162","article-title":"Exome sequencing identifies highly recurrent somatic GATA2 and CEBPA mutations in acute erythroid leukemia","volume":"31","author":"Ping","year":"2017","journal-title":"Leukemia"},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1111\/his.15021","article-title":"Myeloid\/lymphoid neoplasms with eosinophilia and tyrosine kinase fusion genes: A workshop report with focus on novel entities and a literature review including paediatric cases","volume":"83","author":"Saft","year":"2023","journal-title":"Histopathology"},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1111\/bjh.18682","article-title":"Management of patients with germline predisposition to haematological malignancies considered for allogeneic blood and marrow transplantation: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene-CanVar, NHS England Genomic Laboratory Hub (GLH) Haematological Malignancies Working Group and the British Society of Blood and Marrow Transplantation and cellular therapy (BSBMTCT)","volume":"201","author":"Clark","year":"2023","journal-title":"Br. J. Haematol."},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"2081","DOI":"10.3324\/haematol.2021.280116","article-title":"Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children","volume":"107","author":"Gilad","year":"2022","journal-title":"Haematologica"},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1111\/ijlh.13517","article-title":"Laboratory evaluation and prognostication among adults and children with CEBPA-mutant acute myeloid leukemia","volume":"43","author":"Mendoza","year":"2021","journal-title":"Int. J. Lab. Hematol."},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1111\/j.1365-2141.2007.06909.x","article-title":"Familial myelodysplasia and acute myeloid leukaemia\u2014A review","volume":"140","author":"Owen","year":"2008","journal-title":"Br. J. Haematol."},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1053\/j.seminhematol.2017.04.001","article-title":"Familial CEBPA-mutated acute myeloid leukemia","volume":"54","author":"Tawana","year":"2017","journal-title":"Semin. Hematol."},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1007\/s12185-017-2260-y","article-title":"Myeloid neoplasms with germline DDX41 mutation","volume":"106","author":"Cheah","year":"2017","journal-title":"Int. J. Hematol."},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"1214","DOI":"10.1182\/blood-2015-05-647172","article-title":"Disease evolution and outcomes in familial AML with germline CEBPA mutations","volume":"126","author":"Tawana","year":"2015","journal-title":"Blood"},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1182\/blood.2019000937","article-title":"Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA)","volume":"136","author":"Brown","year":"2020","journal-title":"Blood"},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"1450","DOI":"10.1002\/ajh.26321","article-title":"Spectrum of hematological malignancies, clonal evolution and outcomes in 144 Mayo Clinic patients with germline predisposition syndromes","volume":"96","author":"Martin","year":"2021","journal-title":"Am. J. Hematol."},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1038\/13793","article-title":"Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia","volume":"23","author":"Song","year":"1999","journal-title":"Nat. Genet."},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1182\/bloodadvances.2019000901","article-title":"RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML","volume":"4","author":"Brown","year":"2020","journal-title":"Blood Adv."},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"6673","DOI":"10.1182\/blood-2011-02-336537","article-title":"Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: Analysis of 78 patients from 21 families","volume":"117","author":"Noris","year":"2011","journal-title":"Blood"},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1038\/ng.3177","article-title":"Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy","volume":"47","author":"Zhang","year":"2015","journal-title":"Nat. Genet."},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1038\/ng.913","article-title":"Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia","volume":"43","author":"Hahn","year":"2011","journal-title":"Nat. Genet."},{"key":"ref_168","doi-asserted-by":"crossref","first-page":"81","DOI":"10.6004\/jnccn.2020.0001","article-title":"Pediatric Acute Lymphoblastic Leukemia, Version 2.2020, NCCN Clinical Practice Guidelines in Oncology","volume":"18","author":"Brown","year":"2020","journal-title":"J. Natl. Compr. Cancer Netw."},{"key":"ref_169","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.cancergen.2020.03.001","article-title":"Evidence-based review of genomic aberrations in B-lymphoblastic leukemia\/lymphoma: Report from the cancer genomics consortium working group for lymphoblastic leukemia","volume":"243","author":"Akkari","year":"2020","journal-title":"Cancer Genet."},{"key":"ref_170","doi-asserted-by":"crossref","first-page":"1720","DOI":"10.1038\/s41375-022-01620-2","article-title":"The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Lymphoid Neoplasms","volume":"36","author":"Alaggio","year":"2022","journal-title":"Leukemia"},{"key":"ref_171","doi-asserted-by":"crossref","first-page":"2876","DOI":"10.1182\/blood-2023-183103","article-title":"Impact of Treatment with Inotuzumab Ozogamicin before or after Chimeric Antigen Receptor T-Cell Therapy in Children with Relapsed\/Refractory Acute Lymphoblastic Leukemia","volume":"142","author":"Rheingold","year":"2023","journal-title":"Blood"},{"key":"ref_172","doi-asserted-by":"crossref","first-page":"4118","DOI":"10.1200\/JCO.22.02200","article-title":"Children\u2019s Oncology Group AALL1331: Phase III Trial of Blinatumomab in Children, Adolescents, and Young Adults With Low-Risk B-Cell ALL in First Relapse","volume":"41","author":"Hogan","year":"2023","journal-title":"J. Clin. Oncol."},{"key":"ref_173","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/j.jtct.2023.10.005","article-title":"INSPIRED Symposium Part 4A: Access to CAR T Cell Therapy in Unique Populations with B Cell Acute Lymphoblastic Leukemia","volume":"30","author":"Winestone","year":"2024","journal-title":"Transplant. Cell Ther."},{"key":"ref_174","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1016\/j.jtct.2023.08.030","article-title":"INSPIRED Symposium Part 2: Prevention and Management of Relapse Following Chimeric Antigen Receptor T Cell Therapy for B Cell Acute Lymphoblastic Leukemia","volume":"29","author":"Lamble","year":"2023","journal-title":"Transplant. Cell Ther."},{"key":"ref_175","doi-asserted-by":"crossref","first-page":"1376","DOI":"10.1038\/s41588-022-01159-z","article-title":"The genomic landscape of pediatric acute lymphoblastic leukemia","volume":"54","author":"Brady","year":"2022","journal-title":"Nat. Genet."},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1182\/blood-2016-10-743765","article-title":"Near-haploid and low-hypodiploid acute lymphoblastic leukemia: Two distinct subtypes with consistently poor prognosis","volume":"129","author":"Safavi","year":"2017","journal-title":"Blood"},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1038\/ng.2532","article-title":"The genomic landscape of hypodiploid acute lymphoblastic leukemia","volume":"45","author":"Holmfeldt","year":"2013","journal-title":"Nat. Genet."},{"key":"ref_178","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1111\/j.1365-2141.2004.04948.x","article-title":"Three distinct subgroups of hypodiploidy in acute lymphoblastic leukaemia","volume":"125","author":"Harrison","year":"2004","journal-title":"Br. J. Haematol."},{"key":"ref_179","doi-asserted-by":"crossref","first-page":"1112","DOI":"10.1182\/blood-2006-07-038299","article-title":"Outcome of treatment in children with hypodiploid acute lymphoblastic leukemia","volume":"110","author":"Nachman","year":"2007","journal-title":"Blood"},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"e05545","DOI":"10.1002\/ccr3.5545","article-title":"Very rare near-haploid acute lymphoblastic leukemia resistant to immunotherapy and CAR-T therapy in 19-year-old male patient","volume":"10","author":"Arpas","year":"2022","journal-title":"Clin. Case Rep."},{"key":"ref_181","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1002\/gcc.22163","article-title":"Acute lymphoblastic leukemia with low hypodiploid\/near triploid karyotype is a specific clinical entity and exhibits a very high TP53 mutation frequency of 93%","volume":"53","author":"Zenger","year":"2014","journal-title":"Genes Chromosomes Cancer"},{"key":"ref_182","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/leu.2012.227","article-title":"Loss of chromosomes is the primary event in near-haploid and low-hypodiploid acute lymphoblastic leukemia","volume":"27","author":"Safavi","year":"2013","journal-title":"Leukemia"},{"key":"ref_183","doi-asserted-by":"crossref","first-page":"1710","DOI":"10.1038\/s41409-021-01230-z","article-title":"Decitabine may improve CAR-T efficacy in refractory\/relapsed acute leukemia patients carrying TP53 alterations","volume":"56","author":"Qu","year":"2021","journal-title":"Bone Marrow Transplant."},{"key":"ref_184","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1186\/s13023-021-01972-5","article-title":"Mature B cell acute lymphoblastic leukaemia with KMT2A-MLLT3 transcripts in children: Three case reports and literature reviews","volume":"16","author":"Cui","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_185","doi-asserted-by":"crossref","first-page":"465","DOI":"10.3109\/08880018.2013.783891","article-title":"Mature B-cell lymphoma and leukemia in children and adolescents-review of standard chemotherapy regimen and perspectives","volume":"30","author":"Worch","year":"2013","journal-title":"Pediatr. Hematol. Oncol."},{"key":"ref_186","doi-asserted-by":"crossref","first-page":"2289","DOI":"10.3109\/10428194.2016.1141407","article-title":"B-cell acute lymphoblastic leukemia with mature phenotype and MLL rearrangement: Report of five new cases and review of the literature","volume":"57","author":"Sajaroff","year":"2016","journal-title":"Leuk. Lymphoma"},{"key":"ref_187","doi-asserted-by":"crossref","unstructured":"Kenkel, T.J., Sridhar, N., Hammons, L.R., Hintzke, M., and Shah, N.N. (2023). Bone Marrow Aplasia after CAR-T-Cell Therapy for Relapsed\/Refractory Burkitt\u2019s Lymphoma. Med. Sci., 11.","DOI":"10.3390\/medsci11040067"},{"key":"ref_188","doi-asserted-by":"crossref","first-page":"1406","DOI":"10.1038\/leu.2009.42","article-title":"Increased risk for CNS relapse in pre-B cell leukemia with the t(1;19)\/TCF3-PBX1","volume":"23","author":"Jeha","year":"2009","journal-title":"Leukemia"},{"key":"ref_189","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1038\/nrc2764","article-title":"From pathogenesis to treatment of chronic lymphocytic leukaemia","volume":"10","author":"Zenz","year":"2010","journal-title":"Nat. Rev. Cancer"},{"key":"ref_190","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1002\/pbc.24865","article-title":"Chronic lymphocytic leukemia in a child: A challenging diagnosis in pediatric oncology practice","volume":"61","author":"Demir","year":"2014","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_191","doi-asserted-by":"crossref","first-page":"1164","DOI":"10.1016\/S0140-6736(10)61381-5","article-title":"Addition of rituximab to fludarabine and cyclophosphamide in patients with chronic lymphocytic leukaemia: A randomised, open-label, phase 3 trial","volume":"376","author":"Hallek","year":"2010","journal-title":"Lancet"},{"key":"ref_192","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1182\/blood-2023-179529","article-title":"Lisocabtagene Maraleucel (liso-cel) in R\/R CLL\/SLL: 24-Month Median Follow-up of TRANSCEND CLL 004","volume":"142","author":"Siddiqi","year":"2023","journal-title":"Blood"},{"key":"ref_193","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1016\/S0140-6736(23)01052-8","article-title":"Lisocabtagene maraleucel in chronic lymphocytic leukaemia and small lymphocytic lymphoma (TRANSCEND CLL 004): A multicentre, open-label, single-arm, phase 1-2 study","volume":"402","author":"Siddiqi","year":"2023","journal-title":"Lancet"},{"key":"ref_194","doi-asserted-by":"crossref","first-page":"e960","DOI":"10.1097\/MPH.0000000000002390","article-title":"Allogeneic Bone Marrow Transplant as a Cure for Refractory T-Cell Large Granular Lymphocytic Leukemia in an Adolescent","volume":"44","author":"Fries","year":"2022","journal-title":"J. Pediatr. Hematol. Oncol."},{"key":"ref_195","doi-asserted-by":"crossref","first-page":"e28487","DOI":"10.1002\/pbc.28487","article-title":"T-cell large granular lymphocytic leukemia successfully treated with oral cyclosporine in a child: Case report and review of literature","volume":"67","author":"Mittal","year":"2020","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_196","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1111\/j.1442-200X.2012.03631.x","article-title":"T-cell large granular lymphocyte leukemia in a child with anemia and Crohn\u2019s disease","volume":"55","author":"Kondoh","year":"2013","journal-title":"Pediatr. Int."},{"key":"ref_197","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1007\/s100240010126","article-title":"Large granular lymphocyte leukemia: Case report of chronic neutropenia and rheumatoid arthritis-like symptoms in a child","volume":"4","author":"Blanchong","year":"2001","journal-title":"Pediatr. Dev. Pathol."},{"key":"ref_198","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1002\/pbc.20902","article-title":"Large granular lymphocyte leukemia (LGL) in a child with hyper IgM syndrome and autoimmune hemolytic anemia","volume":"50","author":"Kitchen","year":"2008","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_199","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1182\/asheducation.V2012.1.652.3798658","article-title":"Large granular lymphocytic leukemia: Molecular pathogenesis, clinical manifestations, and treatment","volume":"2012","author":"Zhang","year":"2012","journal-title":"Hematol. Am. Soc. Hematol. Educ. Program"},{"key":"ref_200","doi-asserted-by":"crossref","first-page":"S52","DOI":"10.5045\/br.2023.2023037","article-title":"T-large granular lymphocytic leukemia","volume":"58","author":"Park","year":"2023","journal-title":"Blood Res."},{"key":"ref_201","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1007\/s12185-019-02682-2","article-title":"T-cell large granular lymphocyte leukemia in solid organ transplant recipients: Case series and review of the literature","volume":"110","author":"Alfano","year":"2019","journal-title":"Int. J. Hematol."},{"key":"ref_202","first-page":"17","article-title":"Large granular lymphocytic leukemia: A brief review","volume":"12","author":"Rahul","year":"2022","journal-title":"Am. J. Blood Res."},{"key":"ref_203","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/s11899-020-00565-6","article-title":"Advances in the Diagnosis and Treatment of Large Granular Lymphocytic Leukemia","volume":"15","author":"Cheon","year":"2020","journal-title":"Curr. Hematol. Malig. Rep."},{"key":"ref_204","doi-asserted-by":"crossref","first-page":"2764","DOI":"10.1182\/blood-2010-07-296962","article-title":"How I treat LGL leukemia","volume":"117","author":"Lamy","year":"2011","journal-title":"Blood"},{"key":"ref_205","doi-asserted-by":"crossref","first-page":"886","DOI":"10.1038\/leu.2014.298","article-title":"Immunosuppressive therapy of LGL leukemia: Prospective multicenter phase II study by the Eastern Cooperative Oncology Group (E5998)","volume":"29","author":"Loughran","year":"2015","journal-title":"Leukemia"},{"key":"ref_206","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1007\/s11912-021-01159-y","article-title":"Large Granular Lymphocytic Leukemia: Current State of Diagnosis, Pathogenesis and Treatment","volume":"24","author":"Magnano","year":"2022","journal-title":"Curr. Oncol. 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