{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,8]],"date-time":"2026-08-08T04:43:07Z","timestamp":1786164187546,"version":"build-2736575974"},"reference-count":148,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Human Pathology"],"published-print":{"date-parts":[[2026,7]]},"DOI":"10.1016\/j.humpath.2026.106216","type":"journal-article","created":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T23:22:47Z","timestamp":1785367367000},"page":"106216","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Molecular subtypes and genetic diagnostics in B-cell acute lymphoblastic leukemia"],"prefix":"10.1016","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-2997-6071","authenticated-orcid":false,"given":"Roberta S.","family":"Azevedo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6577-8006","authenticated-orcid":false,"given":"L. Jeffrey","family":"Medeiros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanam","family":"Loghavi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas J.","family":"Short","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"9","key":"10.1016\/j.humpath.2026.106216_bib1","doi-asserted-by":"crossref","first-page":"975","DOI":"10.1200\/JCO.2016.70.7836","article-title":"Genetic basis of acute lymphoblastic leukemia","volume":"35","author":"Iacobucci","year":"2017","journal-title":"J Clin Oncol"},{"issue":"1","key":"10.1016\/j.humpath.2026.106216_bib2","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1182\/asheducation-2018.1.137","article-title":"Genetics and prognosis of ALL in children vs adults","volume":"2018","author":"Roberts","year":"2018","journal-title":"Hematology"},{"issue":"14","key":"10.1016\/j.humpath.2026.106216_bib3","doi-asserted-by":"crossref","first-page":"1451","DOI":"10.1182\/blood.2023022919","article-title":"Genetic subtypes of B-cell acute lymphoblastic leukemia in adults","volume":"145","author":"Passet","year":"2025","journal-title":"Blood"},{"issue":"7","key":"10.1016\/j.humpath.2026.106216_bib4","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1002\/ajh.27708","article-title":"Adult acute lymphoblastic leukemia: 2025 update on diagnosis, therapy, and monitoring","volume":"100","author":"Kantarjian","year":"2025","journal-title":"Am J Hematol"},{"issue":"11","key":"10.1016\/j.humpath.2026.106216_bib5","doi-asserted-by":"crossref","first-page":"1702","DOI":"10.3324\/haematol.2012.080432","article-title":"Clinico-biological features of 5202 patients with acute lymphoblastic leukemia enrolled in the Italian AIEOP and GIMEMA protocols and stratified in age cohorts","volume":"98","author":"Chiaretti","year":"2013","journal-title":"Haematologica"},{"issue":"2","key":"10.1016\/j.humpath.2026.106216_bib6","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1038\/s41588-018-0315-5","article-title":"PAX5-driven subtypes of B-progenitor acute lymphoblastic leukemia","volume":"51","author":"Gu","year":"2019","journal-title":"Nat Genet"},{"issue":"7137","key":"10.1016\/j.humpath.2026.106216_bib7","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1038\/nature05690","article-title":"Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia","volume":"446","author":"Mullighan","year":"2007","journal-title":"Nature"},{"issue":"2","key":"10.1016\/j.humpath.2026.106216_bib8","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/S1535-6108(02)00032-6","article-title":"Classification, subtype discovery, and prediction of outcome in pediatric acute lymphoblastic leukemia by gene expression profiling","volume":"1","author":"Yeoh","year":"2002","journal-title":"Cancer Cell"},{"issue":"20","key":"10.1016\/j.humpath.2026.106216_bib9","doi-asserted-by":"crossref","first-page":"2391","DOI":"10.1182\/blood-2016-03-643544","article-title":"The 2016 revision to the world health organization classification of myeloid neoplasms and acute leukemia","volume":"127","author":"Arber","year":"2016","journal-title":"Blood"},{"issue":"7","key":"10.1016\/j.humpath.2026.106216_bib10","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"},{"issue":"11","key":"10.1016\/j.humpath.2026.106216_bib11","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1182\/blood.2022015850","article-title":"International consensus classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data","volume":"140","author":"Arber","year":"2022","journal-title":"Blood"},{"issue":"16","key":"10.1016\/j.humpath.2026.106216_bib12","doi-asserted-by":"crossref","first-page":"1832","DOI":"10.1182\/blood-2017-05-783852","article-title":"Impact of cytogenetic abnormalities in adults with Ph-negative B-cell precursor acute lymphoblastic leukemia","volume":"130","author":"Lafage-Pochitaloff","year":"2017","journal-title":"Blood"},{"issue":"11","key":"10.1016\/j.humpath.2026.106216_bib13","doi-asserted-by":"crossref","first-page":"948","DOI":"10.1182\/blood.2020010144","article-title":"Molecular classification improves risk assessment in adult BCR-ABL1\u2013negative B-ALL","volume":"138","author":"Paietta","year":"2021","journal-title":"Blood"},{"issue":"4","key":"10.1016\/j.humpath.2026.106216_bib14","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1111\/j.1365-2141.1981.tb02684.x","article-title":"The morphological classification of acute lymphoblastic leukaemia: concordance among observers and clinical correlations","volume":"47","author":"Bennett","year":"1981","journal-title":"Br J Haematol"},{"issue":"11","key":"10.1016\/j.humpath.2026.106216_bib15","doi-asserted-by":"crossref","first-page":"1480","DOI":"10.1097\/00000478-200011000-00003","article-title":"Precursor B-cell lymphoblastic lymphoma: a predominantly extranodal tumor with low propensity for leukemic involvement","volume":"24","author":"Lin","year":"2000","journal-title":"Am J Surg Pathol"},{"issue":"7","key":"10.1016\/j.humpath.2026.106216_bib16","doi-asserted-by":"crossref","DOI":"10.3390\/cancers17071111","article-title":"The flow cytometric evaluation of B- and T-Lymphoblastic Leukemia\/Lymphoma","volume":"17","author":"Dorfman","year":"2025","journal-title":"Cancers (Basel)"},{"issue":"10","key":"10.1016\/j.humpath.2026.106216_bib17","first-page":"1783","article-title":"Proposals for the immunological classification of acute leukemias. European group for the Immunological characterization of Leukemias (EGIL)","volume":"9","author":"Bene","year":"1995","journal-title":"Leukemia"},{"issue":"6","key":"10.1016\/j.humpath.2026.106216_bib18","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1038\/ng.3301","article-title":"The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia","volume":"47","author":"Paulsson","year":"2015","journal-title":"Nat Genet"},{"issue":"1","key":"10.1016\/j.humpath.2026.106216_bib19","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1002\/gcc.20502","article-title":"Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia","volume":"47","author":"Paulsson","year":"2008","journal-title":"Genes Chromosomes Cancer"},{"issue":"2","key":"10.1016\/j.humpath.2026.106216_bib20","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1182\/blood-2007-05-088310","article-title":"Molecular allelokaryotyping of pediatric acute lymphoblastic leukemias by high-resolution single nucleotide polymorphism oligonucleotide genomic microarray","volume":"111","author":"Kawamata","year":"2008","journal-title":"Blood"},{"issue":"8","key":"10.1016\/j.humpath.2026.106216_bib21","doi-asserted-by":"crossref","first-page":"1656","DOI":"10.1038\/leu.2015.107","article-title":"KRAS and CREBBP mutations: a relapse-linked malicious liaison in childhood high hyperdiploid acute lymphoblastic leukemia","volume":"29","author":"Malinowska-Ozdowy","year":"2015","journal-title":"Leukemia"},{"key":"10.1016\/j.humpath.2026.106216_bib22","first-page":"21","article-title":"Genomic basis of B-Cell precursor acute lymphoblastic leukemia","author":"Kimura","year":"2024","journal-title":"Springer Nature Switzerland"},{"issue":"9","key":"10.1016\/j.humpath.2026.106216_bib23","doi-asserted-by":"crossref","first-page":"1424","DOI":"10.3324\/haematol.2013.085852","article-title":"High modal number and triple trisomies are highly correlated favorable factors in childhood B-cell precursor high hyperdiploid acute lymphoblastic leukemia treated according to the NOPHO ALL 1992\/2000 protocols","volume":"98","author":"Paulsson","year":"2013","journal-title":"Haematologica"},{"issue":"11","key":"10.1016\/j.humpath.2026.106216_bib24","doi-asserted-by":"crossref","first-page":"e828","DOI":"10.1016\/S2352-3026(21)00304-5","article-title":"Defining low-risk high hyperdiploidy in patients with paediatric acute lymphoblastic leukaemia: a retrospective analysis of data from the UKALL97\/99 and UKALL2003 clinical trials","volume":"8","author":"Enshaei","year":"2021","journal-title":"Lancet Haematol"},{"issue":"29","key":"10.1016\/j.humpath.2026.106216_bib25","doi-asserted-by":"crossref","first-page":"3491","DOI":"10.1200\/JCO.23.02238","article-title":"Genomic determinants of outcome in acute lymphoblastic leukemia","volume":"42","author":"Chang","year":"2024","journal-title":"J Clin Oncol"},{"issue":"9","key":"10.1016\/j.humpath.2026.106216_bib26","doi-asserted-by":"crossref","first-page":"4093","DOI":"10.1002\/cam4.2255","article-title":"Is hyperdiploidy a favorable cytogenetics in adults with B-lymphoblastic leukemia?","volume":"8","author":"Chen","year":"2019","journal-title":"Cancer Med"},{"issue":"5","key":"10.1016\/j.humpath.2026.106216_bib27","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"},{"issue":"9","key":"10.1016\/j.humpath.2026.106216_bib28","doi-asserted-by":"crossref","first-page":"2051","DOI":"10.3324\/haematol.2021.279177","article-title":"Genetic and genomic analysis of acute lymphoblastic leukemia in older adults reveals a distinct profile of abnormalities: analysis of 210 patients from the UKALL14 and UKALL60+ clinical trials","volume":"107","author":"Creasey","year":"2022","journal-title":"Haematologica"},{"issue":"8","key":"10.1016\/j.humpath.2026.106216_bib29","doi-asserted-by":"crossref","first-page":"2444","DOI":"10.1182\/blood-2003-04-1299","article-title":"A report from the LALA-94 and LALA-SA groups on hypodiploidy with 30 to 39 chromosomes and near-triploidy: 2 possible expressions of a sole entity conferring poor prognosis in adult acute lymphoblastic leukemia (ALL)","volume":"104","author":"Charrin","year":"2004","journal-title":"Blood"},{"issue":"2","key":"10.1016\/j.humpath.2026.106216_bib30","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1158\/2643-3230.BCD-22-0154","article-title":"Adult low-hypodiploid acute lymphoblastic Leukemia emerges from preleukemic TP53 -Mutant clonal hematopoiesis","volume":"4","author":"Kim","year":"2023","journal-title":"Blood Cancer Discov"},{"issue":"6","key":"10.1016\/j.humpath.2026.106216_bib31","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":"M\u00fchlbacher","year":"2014","journal-title":"Genes Chromosomes Cancer"},{"issue":"6","key":"10.1016\/j.humpath.2026.106216_bib32","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1200\/JCO.2017.75.5215","article-title":"TP53 germline variations influence the predisposition and prognosis of B-Cell acute lymphoblastic leukemia in children","volume":"36","author":"Qian","year":"2018","journal-title":"J Clin Oncol"},{"issue":"5","key":"10.1016\/j.humpath.2026.106216_bib33","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1182\/blood.2025030498","article-title":"Impact of TP53 mutations and their variant allele frequency in adults with newly diagnosed acute lymphoblastic leukemia","volume":"147","author":"Azevedo","year":"2026","journal-title":"Blood"},{"issue":"3","key":"10.1016\/j.humpath.2026.106216_bib34","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1158\/2643-3230.BCD-23-0106","article-title":"Acute lymphoblastic leukemia with Myeloid mutations is a high-risk disease associated with clonal hematopoiesis","volume":"5","author":"Saygin","year":"2024","journal-title":"Blood Cancer Discov"},{"issue":"3","key":"10.1016\/j.humpath.2026.106216_bib35","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"},{"issue":"4","key":"10.1016\/j.humpath.2026.106216_bib36","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"},{"issue":"9","key":"10.1016\/j.humpath.2026.106216_bib37","doi-asserted-by":"crossref","first-page":"2159","DOI":"10.1182\/bloodadvances.2024014986","article-title":"TP53 mutations are associated with CD19- relapse and inferior outcomes after blinatumomab in adults with ALL","volume":"9","author":"Aldoss","year":"2025","journal-title":"Blood Adv"},{"issue":"36","key":"10.1016\/j.humpath.2026.106216_bib38","doi-asserted-by":"crossref","first-page":"4246","DOI":"10.1200\/JCO.24.00272","article-title":"Results of the simultaneous combination of ponatinib and blinatumomab in Philadelphia chromosome-positive ALL","volume":"42","author":"Kantarjian","year":"2024","journal-title":"J Clin Oncol"},{"issue":"17","key":"10.1016\/j.humpath.2026.106216_bib39","doi-asserted-by":"crossref","first-page":"1613","DOI":"10.1056\/NEJMoa2016272","article-title":"Dasatinib\u2013blinatumomab for Ph-Positive acute lymphoblastic leukemia in adults","volume":"383","author":"Fo\u00e0","year":"2020","journal-title":"N Engl J Med"},{"issue":"23","key":"10.1016\/j.humpath.2026.106216_bib40","doi-asserted-by":"crossref","first-page":"4158","DOI":"10.1002\/cncr.29646","article-title":"Long-term follow-up of a phase 2 study of chemotherapy plus dasatinib for the initial treatment of patients with Philadelphia chromosome-positive acute lymphoblastic leukemia","volume":"121","author":"Ravandi","year":"2015","journal-title":"Cancer"},{"issue":"15","key":"10.1016\/j.humpath.2026.106216_bib41","doi-asserted-by":"crossref","first-page":"1547","DOI":"10.1016\/S1470-2045(15)00207-7","article-title":"Combination of hyper-CVAD with ponatinib as first-line therapy for patients with Philadelphia chromosome-positive acute lymphoblastic leukaemia: a single-centre, phase 2 study","volume":"16","author":"Jabbour","year":"2015","journal-title":"Lancet Oncol"},{"issue":"19","key":"10.1016\/j.humpath.2026.106216_bib42","doi-asserted-by":"crossref","first-page":"1941","DOI":"10.1056\/NEJMra2405573","article-title":"Ph-Positive acute lymphoblastic leukemia \u2014 25 years of progress","volume":"392","author":"Fo\u00e0","year":"2025","journal-title":"N Engl J Med"},{"issue":"2","key":"10.1016\/j.humpath.2026.106216_bib43","doi-asserted-by":"crossref","first-page":"312","DOI":"10.3324\/haematol.2018.196055","article-title":"Prognostic implications of additional genomic lesions in adult Philadelphia chromosome-positive acute lymphoblastic leukemia","volume":"104","author":"Fedullo","year":"2019","journal-title":"Haematologica"},{"issue":"13","key":"10.1016\/j.humpath.2026.106216_bib44","doi-asserted-by":"crossref","first-page":"1464","DOI":"10.1182\/blood-2017-07-796862","article-title":"Genomic CDKN2A\/2B deletions in adult Ph(+) ALL are adverse despite allogeneic stem cell transplantation","volume":"131","author":"Pfeifer","year":"2018","journal-title":"Blood"},{"issue":"7191","key":"10.1016\/j.humpath.2026.106216_bib45","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1038\/nature06866","article-title":"BCR-ABL1 lymphoblastic leukaemia is characterized by the deletion of Ikaros","volume":"453","author":"Mullighan","year":"2008","journal-title":"Nature"},{"issue":"31","key":"10.1016\/j.humpath.2026.106216_bib46","doi-asserted-by":"crossref","first-page":"5202","DOI":"10.1200\/JCO.2008.21.6408","article-title":"IKZF1 (Ikaros) deletions in BCR-ABL1-positive acute lymphoblastic leukemia are associated with short disease-free survival and high rate of cumulative incidence of relapse: a GIMEMA AL WP report","volume":"27","author":"Martinelli","year":"2009","journal-title":"J Clin Oncol"},{"issue":"8","key":"10.1016\/j.humpath.2026.106216_bib47","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1200\/JCO.23.01075","article-title":"Long-Term results of the dasatinib-blinatumomab protocol for adult philadelphia-positive ALL","volume":"42","author":"Fo\u00e0","year":"2024","journal-title":"J Clin Oncol"},{"issue":"1","key":"10.1016\/j.humpath.2026.106216_bib48","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1186\/s13045-025-01709-y","article-title":"Molecular characterization and predictors of relapse in patients with Ph + ALL after frontline ponatinib and blinatumomab","volume":"18","author":"Short","year":"2025","journal-title":"J Hematol Oncol"},{"issue":"12","key":"10.1016\/j.humpath.2026.106216_bib49","doi-asserted-by":"crossref","first-page":"2831","DOI":"10.1080\/10428194.2020.1795160","article-title":"Chronic myeloid leukemia presenting in lymphoblastic crisis, a differential diagnosis with Philadelphia-positive B-lymphoblastic leukemia","volume":"61","author":"Chen","year":"2020","journal-title":"Leuk Lymphoma"},{"key":"10.1016\/j.humpath.2026.106216_bib50","doi-asserted-by":"crossref","DOI":"10.3389\/fonc.2020.586567","article-title":"Multi-Lineage BCR-ABL expression in Philadelphia chromosome-positive acute lymphoblastic leukemia is associated with improved prognosis but no specific molecular features","volume":"10","author":"Nishiwaki","year":"2020","journal-title":"Front Oncol"},{"issue":"20","key":"10.1016\/j.humpath.2026.106216_bib51","doi-asserted-by":"crossref","first-page":"2771","DOI":"10.1182\/blood-2016-11-749978","article-title":"Monitoring of childhood ALL using BCR-ABL1 genomic breakpoints identifies a subgroup with CML-like biology","volume":"129","author":"Hovorkova","year":"2017","journal-title":"Blood"},{"issue":"8","key":"10.1016\/j.humpath.2026.106216_bib52","doi-asserted-by":"crossref","first-page":"1196","DOI":"10.1002\/ajh.26949","article-title":"Ultrasensitive NGS MRD assessment in Ph+ ALL: prognostic impact and correlation with RT-PCR for BCR::ABL1","volume":"98","author":"Short","year":"2023","journal-title":"Am J Hematol"},{"issue":"14","key":"10.1016\/j.humpath.2026.106216_bib53","doi-asserted-by":"crossref","first-page":"1391","DOI":"10.1182\/blood.2023021752","article-title":"Developmental trajectories and cooperating genomic events define molecular subtypes of BCR::ABL1-positive ALL","volume":"143","author":"Bastian","year":"2024","journal-title":"Blood"},{"issue":"7","key":"10.1016\/j.humpath.2026.106216_bib54","doi-asserted-by":"crossref","first-page":"1186","DOI":"10.1038\/s41588-023-01429-4","article-title":"Transcriptomic classes of BCR-ABL1 lymphoblastic leukemia","volume":"55","author":"Kim","year":"2023","journal-title":"Nat Genet"},{"issue":"18","key":"10.1016\/j.humpath.2026.106216_bib55","doi-asserted-by":"crossref","first-page":"2027","DOI":"10.1182\/blood-2017-05-782888","article-title":"Hematopoietic stem cell involvement in BCR-ABL1-positive ALL as a potential mechanism of resistance to blinatumomab therapy","volume":"130","author":"Nagel","year":"2017","journal-title":"Blood"},{"issue":"25","key":"10.1016\/j.humpath.2026.106216_bib56","doi-asserted-by":"crossref","first-page":"2246","DOI":"10.1200\/JCO.19.00261","article-title":"Outcome of infants younger than 1 year with acute lymphoblastic leukemia treated with the Interfant-06 protocol: results from an international phase III randomized Study","volume":"37","author":"Pieters","year":"2019","journal-title":"J Clin Oncol"},{"issue":"9","key":"10.1016\/j.humpath.2026.106216_bib57","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"},{"issue":"5","key":"10.1016\/j.humpath.2026.106216_bib58","doi-asserted-by":"crossref","first-page":"988","DOI":"10.1038\/s41375-023-01877-1","article-title":"The KMT2A recombinome of acute leukemias in 2023","volume":"37","author":"Meyer","year":"2023","journal-title":"Leukemia"},{"issue":"25","key":"10.1016\/j.humpath.2026.106216_bib59","doi-asserted-by":"crossref","first-page":"2676","DOI":"10.1182\/blood-2015-09-667378","article-title":"Revisiting the biology of infant t(4;11)\/MLL-AF4+ B-cell acute lymphoblastic leukemia","volume":"126","author":"Sanjuan-Pla","year":"2015","journal-title":"Blood"},{"issue":"4","key":"10.1016\/j.humpath.2026.106216_bib60","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1038\/ng.3230","article-title":"The landscape of somatic mutations in infant MLL-rearranged acute lymphoblastic leukemias","volume":"47","author":"Andersson","year":"2015","journal-title":"Nat Genet"},{"issue":"21","key":"10.1016\/j.humpath.2026.106216_bib61","doi-asserted-by":"crossref","first-page":"1806","DOI":"10.1182\/blood.2023021501","article-title":"Genetic alterations and MRD refine risk assessment for KMT2A-rearranged B-cell precursor ALL in adults: a GRAALL study","volume":"142","author":"Kim","year":"2023","journal-title":"Blood"},{"issue":"6","key":"10.1016\/j.humpath.2026.106216_bib62","doi-asserted-by":"crossref","first-page":"945","DOI":"10.3324\/haematol.2012.081877","article-title":"The clinical characteristics, therapy and outcome of 85 adults with acute lymphoblastic leukemia and t(4;11)(q21;q23)\/MLL-AFF1 prospectively treated in the UKALLXII\/ECOG2993 trial","volume":"98","author":"Marks","year":"2013","journal-title":"Haematologica"},{"issue":"4","key":"10.1016\/j.humpath.2026.106216_bib63","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1182\/blood.2024026655","article-title":"Project EVOLVE: an international analysis of postimmunotherapy lineage switch, an emergent form of relapse in leukemia","volume":"146","author":"Silbert","year":"2025","journal-title":"Blood"},{"key":"10.1016\/j.humpath.2026.106216_bib64","doi-asserted-by":"crossref","DOI":"10.3324\/haematol.2023.283705","article-title":"Myeloid lineage switch in KMT2A- rearranged acute lymphoblastic leukemia treated with lymphoid lineage-directed therapies","author":"Bataller","year":"2023","journal-title":"Haematologica"},{"issue":"21","key":"10.1016\/j.humpath.2026.106216_bib65","doi-asserted-by":"crossref","first-page":"35445","DOI":"10.18632\/oncotarget.16367","article-title":"Pathogenesis of ETV6\/RUNX1-positive childhood acute lymphoblastic leukemia and mechanisms underlying its relapse","volume":"8","author":"Sun","year":"2017","journal-title":"Oncotarget"},{"issue":"12","key":"10.1016\/j.humpath.2026.106216_bib66","doi-asserted-by":"crossref","first-page":"8242","DOI":"10.1073\/pnas.112218799","article-title":"Chromosome translocations and covert leukemic clones are generated during normal fetal development","volume":"99","author":"Mori","year":"2002","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.humpath.2026.106216_bib67","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1007\/978-981-10-3233-2_13","article-title":"Mechanism of ETV6-RUNX1 leukemia","volume":"962","author":"Sundaresh","year":"2017","journal-title":"Adv Exp Med Biol"},{"issue":"2","key":"10.1016\/j.humpath.2026.106216_bib68","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1038\/ng.2874","article-title":"RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia","volume":"46","author":"Papaemmanuil","year":"2014","journal-title":"Nat Genet"},{"issue":"2","key":"10.1016\/j.humpath.2026.106216_bib69","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1038\/leu.2011.227","article-title":"ETV6-RUNX1-positive childhood acute lymphoblastic leukemia: improved outcome with contemporary therapy","volume":"26","author":"Bhojwani","year":"2012","journal-title":"Leukemia"},{"issue":"14","key":"10.1016\/j.humpath.2026.106216_bib70","doi-asserted-by":"crossref","first-page":"1540","DOI":"10.1200\/JCO.20.02370","article-title":"Favorable trisomies and ETV6-RUNX1 predict cure in low-risk B-Cell acute lymphoblastic leukemia: results from Children's Oncology group trial AALL0331","volume":"39","author":"Mattano","year":"2021","journal-title":"J Clin Oncol"},{"issue":"1","key":"10.1016\/j.humpath.2026.106216_bib71","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1128\/MCB.17.1.81","article-title":"The hox cooperativity motif of the chimeric oncoprotein E2a-Pbx1 is necessary and sufficient for oncogenesis","volume":"17","author":"Chang","year":"1997","journal-title":"Mol Cell Biol"},{"issue":"5","key":"10.1016\/j.humpath.2026.106216_bib72","first-page":"363","article-title":"Prognostic significance of the balanced t(1;19) and unbalanced der(19)t(1;19) translocations in acute lymphoblastic leukemia","volume":"6","author":"Secker-Walker","year":"1992","journal-title":"Leukemia"},{"issue":"4","key":"10.1016\/j.humpath.2026.106216_bib73","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1038\/leu.2017.303","article-title":"RAS pathway mutations as a predictive biomarker for treatment adaptation in pediatric B-cell precursor acute lymphoblastic leukemia","volume":"32","author":"Jerchel","year":"2018","journal-title":"Leukemia"},{"issue":"9","key":"10.1016\/j.humpath.2026.106216_bib74","doi-asserted-by":"crossref","first-page":"3667","DOI":"10.1172\/JCI81158","article-title":"Comparative genomics reveals multistep pathogenesis of E2A-PBX1 acute lymphoblastic leukemia","volume":"125","author":"Duque-Afonso","year":"2015","journal-title":"J Clin Investig"},{"issue":"1","key":"10.1016\/j.humpath.2026.106216_bib75","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1080\/10428194.2020.1824071","article-title":"Translocation t(1;19)(q23;p13) in adult acute lymphoblastic leukemia - a distinct subtype with favorable prognosis","volume":"62","author":"Yilmaz","year":"2021","journal-title":"Leuk Lymphoma"},{"issue":"8","key":"10.1016\/j.humpath.2026.106216_bib76","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"},{"issue":"3","key":"10.1016\/j.humpath.2026.106216_bib77","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1111\/bjh.17844","article-title":"Prognostic heterogeneity of adult B-cell precursor acute lymphoblastic leukaemia patients with t(1;19)(q23;p13)\/TCF3-PBX1 treated with measurable residual disease-oriented protocols","volume":"196","author":"Ribera","year":"2022","journal-title":"Br J Haematol"},{"issue":"9","key":"10.1016\/j.humpath.2026.106216_bib78","doi-asserted-by":"crossref","first-page":"1020","DOI":"10.1038\/ng.3362","article-title":"Genomics and drug profiling of fatal TCF3-HLF-positive acute lymphoblastic leukemia identifies recurrent mutation patterns and therapeutic options","volume":"47","author":"Fischer","year":"2015","journal-title":"Nat Genet"},{"issue":"2","key":"10.1016\/j.humpath.2026.106216_bib79","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1038\/sj.leu.2404496","article-title":"Hypercalcemia in childhood acute lymphoblastic leukemia: frequent implication of parathyroid hormone-related peptide and E2A-HLF from translocation 17;19","volume":"21","author":"Inukai","year":"2007","journal-title":"Leukemia"},{"issue":"3","key":"10.1016\/j.humpath.2026.106216_bib80","first-page":"422","article-title":"Characterization of the t(17;19) translocation by gene-specific fluorescent in situ hybridization-based cytogenetics and detection of the E2A-HLF fusion transcript and protein in patients' cells","volume":"91","author":"Yeung","year":"2006","journal-title":"Haematologica"},{"key":"10.1016\/j.humpath.2026.106216_bib81","doi-asserted-by":"crossref","DOI":"10.3389\/fonc.2019.01374","article-title":"B-ALL with t(5;14)(q31;q32); IGH-IL3 rearrangement and eosinophilia: a comprehensive analysis of a peculiar IGH-rearranged B-ALL","volume":"9","author":"Fournier","year":"2019","journal-title":"Front Oncol"},{"issue":"1","key":"10.1016\/j.humpath.2026.106216_bib82","doi-asserted-by":"crossref","DOI":"10.1002\/pbc.27449","article-title":"Paraneoplastic hypereosinophilic syndrome associated with IL3-IgH positive acute lymphoblastic leukemia","volume":"66","author":"Kobayashi","year":"2019","journal-title":"Pediatr Blood Cancer"},{"issue":"3","key":"10.1016\/j.humpath.2026.106216_bib83","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/j.ejmg.2016.01.006","article-title":"Constitutional abnormalities of chromosome 21 predispose to iAMP21-acute lymphoblastic leukaemia","volume":"59","author":"Harrison","year":"2016","journal-title":"Eur J Med Genet"},{"issue":"5","key":"10.1016\/j.humpath.2026.106216_bib84","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1038\/leu.2013.317","article-title":"An international study of intrachromosomal amplification of chromosome 21 (iAMP21): cytogenetic characterization and outcome","volume":"28","author":"Harrison","year":"2014","journal-title":"Leukemia"},{"issue":"25","key":"10.1016\/j.humpath.2026.106216_bib85","doi-asserted-by":"crossref","first-page":"6848","DOI":"10.1182\/blood-2011-01-329961","article-title":"Genomic characterization implicates iAMP21 as a likely primary genetic event in childhood B-cell precursor acute lymphoblastic leukemia","volume":"117","author":"Rand","year":"2011","journal-title":"Blood"},{"issue":"27","key":"10.1016\/j.humpath.2026.106216_bib86","doi-asserted-by":"crossref","first-page":"3389","DOI":"10.1200\/JCO.2013.48.9377","article-title":"Risk-directed treatment intensification significantly reduces the risk of relapse among children and adolescents with acute lymphoblastic leukemia and intrachromosomal amplification of chromosome 21: a comparison of the MRC ALL97\/99 and UKALL2003 trials","volume":"31","author":"Moorman","year":"2013","journal-title":"J Clin Oncol"},{"issue":"27","key":"10.1016\/j.humpath.2026.106216_bib87","doi-asserted-by":"crossref","first-page":"3397","DOI":"10.1200\/JCO.2013.49.1308","article-title":"Intrachromosomal amplification of chromosome 21 is associated with inferior outcomes in children with acute lymphoblastic leukemia treated in contemporary standard-risk children's oncology group studies: a report from the children's oncology group","volume":"31","author":"Heerema","year":"2013","journal-title":"J Clin Oncol"},{"issue":"8","key":"10.1016\/j.humpath.2026.106216_bib88","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1182\/blood.2022019094","article-title":"The genomic landscape of acute lymphoblastic leukemia with intrachromosomal amplification of chromosome 21","volume":"142","author":"Gao","year":"2023","journal-title":"Blood"},{"issue":"2","key":"10.1016\/j.humpath.2026.106216_bib89","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/S1470-2045(08)70339-5","article-title":"A subtype of childhood acute lymphoblastic leukaemia with poor treatment outcome: a genome-wide classification study","volume":"10","author":"Den Boer","year":"2009","journal-title":"Lancet Oncol"},{"issue":"23","key":"10.1016\/j.humpath.2026.106216_bib90","doi-asserted-by":"crossref","first-page":"4874","DOI":"10.1182\/blood-2009-08-239681","article-title":"Identification of novel cluster groups in pediatric high-risk B-precursor acute lymphoblastic leukemia with gene expression profiling: correlation with genome-wide DNA copy number alterations, clinical characteristics, and outcome","volume":"116","author":"Harvey","year":"2010","journal-title":"Blood"},{"issue":"11","key":"10.1016\/j.humpath.2026.106216_bib91","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1056\/NEJMoa1403088","article-title":"Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia","volume":"371","author":"Roberts","year":"2014","journal-title":"N Engl J Med"},{"issue":"5","key":"10.1016\/j.humpath.2026.106216_bib92","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1056\/NEJMoa0808253","article-title":"Deletion of IKZF1 and prognosis in acute lymphoblastic leukemia","volume":"360","author":"Mullighan","year":"2009","journal-title":"N Engl J Med"},{"issue":"19","key":"10.1016\/j.humpath.2026.106216_bib93","doi-asserted-by":"crossref","first-page":"2064","DOI":"10.1182\/blood-2017-06-743252","article-title":"Philadelphia chromosome-like acute lymphoblastic leukemia","volume":"130","author":"Tasian","year":"2017","journal-title":"Blood"},{"issue":"13","key":"10.1016\/j.humpath.2026.106216_bib94","doi-asserted-by":"crossref","first-page":"2688","DOI":"10.1182\/blood-2009-03-208397","article-title":"Deregulated expression of cytokine receptor gene, CRLF2, is involved in lymphoid transformation in B-cell precursor acute lymphoblastic leukemia","volume":"114","author":"Russell","year":"2009","journal-title":"Blood"},{"issue":"11","key":"10.1016\/j.humpath.2026.106216_bib95","doi-asserted-by":"crossref","first-page":"1243","DOI":"10.1038\/ng.469","article-title":"Rearrangement of CRLF2 in B-progenitor- and Down syndrome-associated acute lymphoblastic leukemia","volume":"41","author":"Mullighan","year":"2009","journal-title":"Nat Genet"},{"issue":"1","key":"10.1016\/j.humpath.2026.106216_bib96","doi-asserted-by":"crossref","first-page":"130","DOI":"10.3324\/haematol.2015.136366","article-title":"Adults with Philadelphia chromosome-like acute lymphoblastic leukemia frequently have IGH-CRLF2 and JAK2 mutations, persistence of minimal residual disease and poor prognosis","volume":"102","author":"Herold","year":"2017","journal-title":"Haematologica"},{"issue":"2","key":"10.1016\/j.humpath.2026.106216_bib97","first-page":"172","article-title":"Genomic landscape of Down syndrome-associated acute lymphoblastic leukemia","volume":"142","author":"Li","year":"2023","journal-title":"Blood"},{"issue":"5","key":"10.1016\/j.humpath.2026.106216_bib98","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1182\/blood-2016-07-726588","article-title":"Ph-like acute lymphoblastic leukemia: a high-risk subtype in adults","volume":"129","author":"Jain","year":"2017","journal-title":"Blood"},{"issue":"2","key":"10.1016\/j.humpath.2026.106216_bib99","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.ccr.2012.06.005","article-title":"Genetic alterations activating kinase and cytokine receptor signaling in high-risk acute lymphoblastic leukemia","volume":"22","author":"Roberts","year":"2012","journal-title":"Cancer Cell"},{"issue":"4","key":"10.1016\/j.humpath.2026.106216_bib100","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1200\/JCO.2016.69.0073","article-title":"High frequency and poor outcome of Philadelphia chromosome-like acute lymphoblastic leukemia in adults","volume":"35","author":"Roberts","year":"2017","journal-title":"J Clin Oncol"},{"issue":"16","key":"10.1016\/j.humpath.2026.106216_bib101","doi-asserted-by":"crossref","first-page":"1351","DOI":"10.1182\/blood.2019001244","article-title":"Efficacy of tyrosine kinase inhibitors in Ph-like acute lymphoblastic leukemia harboring ABL-class rearrangements","volume":"134","author":"Tanasi","year":"2019","journal-title":"Blood"},{"issue":"1","key":"10.1016\/j.humpath.2026.106216_bib102","doi-asserted-by":"crossref","first-page":"e110","DOI":"10.1016\/j.clml.2025.09.010","article-title":"Tyrosine kinase inhibitors during frontline therapy in adults with acute lymphoblastic leukemia with ABL-class rearrangements","volume":"26","author":"Braish","year":"2026","journal-title":"Clin Lymphoma Myeloma Leuk"},{"issue":"5","key":"10.1016\/j.humpath.2026.106216_bib103","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1038\/ng.3535","article-title":"Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults","volume":"48","author":"Yasuda","year":"2016","journal-title":"Nat Genet"},{"issue":"12","key":"10.1016\/j.humpath.2026.106216_bib104","doi-asserted-by":"crossref","first-page":"1481","DOI":"10.1038\/ng.3691","article-title":"Deregulation of DUX4 and ERG in acute lymphoblastic leukemia","volume":"48","author":"Zhang","year":"2016","journal-title":"Nat Genet"},{"issue":"12","key":"10.1016\/j.humpath.2026.106216_bib105","doi-asserted-by":"crossref","first-page":"2835","DOI":"10.1038\/s41375-025-02758-5","article-title":"DUX4-rearranged B-ALL: deciphering a biological and clinical conundrum","volume":"39","author":"Bakewell","year":"2025","journal-title":"Leukemia"},{"issue":"8","key":"10.1016\/j.humpath.2026.106216_bib106","doi-asserted-by":"crossref","first-page":"2066","DOI":"10.3324\/haematol.2020.250423","article-title":"DUX4r, ZNF384r and PAX5-P80R mutated B-cell precursor acute lymphoblastic leukemia frequently undergo monocytic switch","volume":"106","author":"Novakova","year":"2021","journal-title":"Haematologica"},{"issue":"8","key":"10.1016\/j.humpath.2026.106216_bib107","doi-asserted-by":"crossref","first-page":"e352","DOI":"10.3324\/haematol.2018.214353","article-title":"CD371 cell surface expression: a unique feature of DUX4-rearranged acute lymphoblastic leukemia","volume":"104","author":"Schinnerl","year":"2019","journal-title":"Haematologica"},{"issue":"17","key":"10.1016\/j.humpath.2026.106216_bib108","doi-asserted-by":"crossref","first-page":"1738","DOI":"10.1182\/blood.2023021952","article-title":"CD371-positive pediatric B-cell acute lymphoblastic leukemia: propensity to lineage switch and slow early response to treatment","volume":"143","author":"Buldini","year":"2024","journal-title":"Blood"},{"issue":"3","key":"10.1016\/j.humpath.2026.106216_bib109","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1038\/s41375-022-01799-4","article-title":"Integrative genomic analysis of childhood acute lymphoblastic leukaemia lacking a genetic biomarker in the UKALL2003 clinical trial","volume":"37","author":"Schwab","year":"2023","journal-title":"Leukemia"},{"issue":"12","key":"10.1016\/j.humpath.2026.106216_bib110","first-page":"4666","article-title":"The paired box domain gene PAX5 is fused to ETV6\/TEL in an acute lymphoblastic leukemia case","volume":"61","author":"Cazzaniga","year":"2001","journal-title":"Cancer Res"},{"issue":"6","key":"10.1016\/j.humpath.2026.106216_bib111","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1038\/sj.leu.2402923","article-title":"PAX5\/ETV6 fusion defines cytogenetic entity dic(9;12)(p13;p13)","volume":"17","author":"Strehl","year":"2003","journal-title":"Leukemia"},{"issue":"3","key":"10.1016\/j.humpath.2026.106216_bib112","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1182\/blood-2018-10-882142","article-title":"PAX5 P80R mutation identifies a novel subtype of B-cell precursor acute lymphoblastic leukemia with favorable outcome","volume":"133","author":"Passet","year":"2019","journal-title":"Blood"},{"issue":"1","key":"10.1016\/j.humpath.2026.106216_bib113","doi-asserted-by":"crossref","first-page":"118","DOI":"10.3324\/haematol.2016.151035","article-title":"ZNF384-related fusion genes define a subgroup of childhood B-cell precursor acute lymphoblastic leukemia with a characteristic immunotype","volume":"102","author":"Hirabayashi","year":"2017","journal-title":"Haematologica"},{"issue":"11","key":"10.1016\/j.humpath.2026.106216_bib114","doi-asserted-by":"crossref","first-page":"3272","DOI":"10.1038\/s41375-021-01199-0","article-title":"Clinical characteristics and outcomes of B-ALL with ZNF384 rearrangements: a retrospective analysis by the Ponte di Legno Childhood ALL Working Group","volume":"35","author":"Hirabayashi","year":"2021","journal-title":"Leukemia"},{"issue":"50","key":"10.1016\/j.humpath.2026.106216_bib115","doi-asserted-by":"crossref","first-page":"E11711","DOI":"10.1073\/pnas.1814397115","article-title":"Transcriptional landscape of B cell precursor acute lymphoblastic leukemia based on an international study of 1,223 cases","volume":"115","author":"Li","year":"2018","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"7","key":"10.1016\/j.humpath.2026.106216_bib116","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1016\/j.exphem.2016.04.011","article-title":"Comprehensive genomic analysis reveals FLT3 activation and a therapeutic strategy for a patient with relapsed adult B-lymphoblastic leukemia","volume":"44","author":"Griffith","year":"2016","journal-title":"Exp Hematol"},{"issue":"1","key":"10.1016\/j.humpath.2026.106216_bib117","doi-asserted-by":"crossref","first-page":"5401","DOI":"10.1038\/s41467-022-33143-w","article-title":"Epigenetic activation of the FLT3 gene by ZNF384 fusion confers a therapeutic susceptibility in acute lymphoblastic leukemia","volume":"13","author":"Zhao","year":"2022","journal-title":"Nat Commun"},{"issue":"3","key":"10.1016\/j.humpath.2026.106216_bib118","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1158\/2643-3230.BCD-21-0163","article-title":"ZNF384 fusion oncoproteins drive lineage aberrancy in acute leukemia","volume":"3","author":"Dickerson","year":"2022","journal-title":"Blood Cancer Discov"},{"issue":"7727","key":"10.1016\/j.humpath.2026.106216_bib119","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1038\/s41586-018-0436-0","article-title":"The genetic basis and cell of origin of mixed phenotype acute leukaemia","volume":"562","author":"Alexander","year":"2018","journal-title":"Nature"},{"issue":"2","key":"10.1016\/j.humpath.2026.106216_bib120","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1080\/10428194.2022.2148217","article-title":"ZNF384 rearrangement is the most frequent genetic lesion in adult PH-negative and ph-like-negative B-other acute lymphoblastic leukemia. Biological and clinical findings","volume":"64","author":"Chiaretti","year":"2023","journal-title":"Leuk Lymphoma"},{"issue":"3","key":"10.1016\/j.humpath.2026.106216_bib121","doi-asserted-by":"crossref","first-page":"717","DOI":"10.3324\/haematol.2021.280557","article-title":"Molecular characterization and clinical outcome of B-cell precursor acute lymphoblastic leukemia with IG-MYC rearrangement","volume":"108","author":"Bomken","year":"2023","journal-title":"Haematologica"},{"issue":"21","key":"10.1016\/j.humpath.2026.106216_bib122","doi-asserted-by":"crossref","first-page":"2280","DOI":"10.1182\/blood-2018-03-842088","article-title":"IG-MYC (+) neoplasms with precursor B-cell phenotype are molecularly distinct from Burkitt lymphomas","volume":"132","author":"Wagener","year":"2018","journal-title":"Blood"},{"key":"10.1016\/j.humpath.2026.106216_bib123","doi-asserted-by":"crossref","DOI":"10.1038\/ncomms13331","article-title":"Genomic analyses identify recurrent MEF2D fusions in acute lymphoblastic leukaemia","volume":"7","author":"Gu","year":"2016","journal-title":"Nat Commun"},{"issue":"28","key":"10.1016\/j.humpath.2026.106216_bib124","doi-asserted-by":"crossref","first-page":"3451","DOI":"10.1200\/JCO.2016.66.5547","article-title":"MEF2D-BCL9 fusion gene is associated with high-risk acute B-Cell precursor lymphoblastic leukemia in adolescents","volume":"34","author":"Suzuki","year":"2016","journal-title":"J Clin Oncol"},{"issue":"1","key":"10.1016\/j.humpath.2026.106216_bib125","doi-asserted-by":"crossref","first-page":"128","DOI":"10.3324\/haematol.2017.186320","article-title":"Clinical and molecular characteristics of MEF2D fusion-positive B-cell precursor acute lymphoblastic leukemia in childhood, including a novel translocation resulting in MEF2D-HNRNPH1 gene fusion","volume":"104","author":"Ohki","year":"2019","journal-title":"Haematologica"},{"issue":"1","key":"10.1016\/j.humpath.2026.106216_bib126","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1158\/2643-3230.BCD-19-0080","article-title":"Targeting MEF2D-fusion oncogenic transcriptional circuitries in B-cell precursor acute lymphoblastic leukemia","volume":"1","author":"Tsuzuki","year":"2020","journal-title":"Blood Cancer Discov"},{"issue":"1","key":"10.1016\/j.humpath.2026.106216_bib127","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1038\/s41375-022-01737-4","article-title":"Clinical characteristics and outcomes of B-cell precursor ALL with MEF2D rearrangements: a retrospective study by the Ponte di Legno Childhood ALL Working Group","volume":"37","author":"Ohki","year":"2023","journal-title":"Leukemia"},{"issue":"13","key":"10.1016\/j.humpath.2026.106216_bib128","doi-asserted-by":"crossref","first-page":"1395","DOI":"10.1182\/blood.2024026928","article-title":"Comprehensive molecular and functional analysis of NUTM1 -rearranged leukemia","volume":"147","author":"Nishimura","year":"2026","journal-title":"Blood"},{"issue":"10","key":"10.1016\/j.humpath.2026.106216_bib129","doi-asserted-by":"crossref","first-page":"e455","DOI":"10.3324\/haematol.2018.206961","article-title":"NUTM1 is a recurrent fusion gene partner in B-cell precursor acute lymphoblastic leukemia associated with increased expression of genes on chromosome band 10p12.31-12.2","volume":"104","author":"Hormann","year":"2019","journal-title":"Haematologica"},{"issue":"10","key":"10.1016\/j.humpath.2026.106216_bib130","doi-asserted-by":"crossref","first-page":"2978","DOI":"10.1038\/s41375-021-01333-y","article-title":"Favorable outcome of NUTM1-rearranged infant and pediatric B cell precursor acute lymphoblastic leukemia in a collaborative international study","volume":"35","author":"Boer","year":"2021","journal-title":"Leukemia"},{"issue":"12","key":"10.1016\/j.humpath.2026.106216_bib131","first-page":"3078","article-title":"B-cell lymphoblastic leukemia\/lymphoma with mutated IKZF1 N159Y: clinical and genetic features of an emerging entity","volume":"110","author":"Alvey","year":"2025","journal-title":"Haematologica"},{"issue":"24","key":"10.1016\/j.humpath.2026.106216_bib132","doi-asserted-by":"crossref","first-page":"3519","DOI":"10.1182\/blood.2022015444","article-title":"Enhancer retargeting of CDX2 and UBTF::ATXN7L3 define a subtype of high-risk B-progenitor acute lymphoblastic leukemia","volume":"139","author":"Kimura","year":"2022","journal-title":"Blood"},{"issue":"24","key":"10.1016\/j.humpath.2026.106216_bib133","doi-asserted-by":"crossref","first-page":"3505","DOI":"10.1182\/blood.2021014723","article-title":"Concurrent CDX2 cis-deregulation and UBTF::ATXN7L3 fusion define a novel high-risk subtype of B-cell ALL","volume":"139","author":"Passet","year":"2022","journal-title":"Blood"},{"issue":"6","key":"10.1016\/j.humpath.2026.106216_bib134","doi-asserted-by":"crossref","first-page":"1676","DOI":"10.1038\/s41375-022-01557-6","article-title":"UBTF::ATXN7L3 gene fusion defines novel B cell precursor ALL subtype with CDX2 expression and need for intensified treatment","volume":"36","author":"Bastian","year":"2022","journal-title":"Leukemia"},{"issue":"4","key":"10.1016\/j.humpath.2026.106216_bib135","doi-asserted-by":"crossref","first-page":"2387","DOI":"10.1007\/s00277-024-06151-7","article-title":"How to combine multiple tools for the genetic diagnosis work-up of pediatric B-cell acute lymphoblastic leukemia","volume":"104","author":"Hidalgo-G\u00f3mez","year":"2025","journal-title":"Ann Hematol"},{"issue":"21","key":"10.1016\/j.humpath.2026.106216_bib136","doi-asserted-by":"crossref","first-page":"2228","DOI":"10.1182\/blood.2022015853","article-title":"Genomic profiling for clinical decision making in myeloid neoplasms and acute leukemia","volume":"140","author":"Duncavage","year":"2022","journal-title":"Blood"},{"issue":"4","key":"10.1016\/j.humpath.2026.106216_bib137","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1182\/blood-2016-03-707562","article-title":"Impact of complete molecular response on survival in patients with Philadelphia chromosome-positive acute lymphoblastic leukemia","volume":"128","author":"Short","year":"2016","journal-title":"Blood"},{"issue":"9","key":"10.1016\/j.humpath.2026.106216_bib138","doi-asserted-by":"crossref","DOI":"10.3390\/cancers17091436","article-title":"Clinical utility of optical genome mapping as an additional tool in a standard cytogenetic workup in hematological malignancies","volume":"17","author":"Toruner","year":"2025","journal-title":"Cancers (Basel)"},{"issue":"5","key":"10.1016\/j.humpath.2026.106216_bib139","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1002\/ajh.26487","article-title":"Optimizing the diagnostic workflow for acute lymphoblastic leukemia by optical genome mapping","volume":"97","author":"Rack","year":"2022","journal-title":"Am J Hematol"},{"issue":"1","key":"10.1016\/j.humpath.2026.106216_bib140","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1186\/s13045-017-0431-1","article-title":"Spectrum of somatic mutations detected by targeted next-generation sequencing and their prognostic significance in adult patients with acute lymphoblastic leukemia","volume":"10","author":"Feng","year":"2017","journal-title":"J Hematol Oncol"},{"issue":"13","key":"10.1016\/j.humpath.2026.106216_bib141","doi-asserted-by":"crossref","first-page":"2957","DOI":"10.1182\/bloodadvances.2022009179","article-title":"Classification and genetics of pediatric B-other acute lymphoblastic leukemia by targeted RNA sequencing","volume":"7","author":"Migita","year":"2023","journal-title":"Blood Adv"},{"issue":"4","key":"10.1016\/j.humpath.2026.106216_bib142","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1038\/s41408-020-0308-3","article-title":"A novel targeted RNA-Seq panel identifies a subset of adult patients with acute lymphoblastic leukemia with BCR-ABL1-like characteristics","volume":"10","author":"S\u00e1nchez","year":"2020","journal-title":"Blood Cancer J"},{"issue":"1","key":"10.1016\/j.humpath.2026.106216_bib143","doi-asserted-by":"crossref","first-page":"886","DOI":"10.1186\/s12885-021-08635-5","article-title":"Clinical application of whole transcriptome sequencing for the classification of patients with acute lymphoblastic leukemia","volume":"21","author":"Walter","year":"2021","journal-title":"BMC Cancer"},{"issue":"17","key":"10.1016\/j.humpath.2026.106216_bib144","doi-asserted-by":"crossref","DOI":"10.3390\/jcm10173792","article-title":"Biologic and therapeutic implications of genomic alterations in acute lymphoblastic leukemia","volume":"10","author":"Iacobucci","year":"2021","journal-title":"J Clin Med"},{"issue":"4","key":"10.1016\/j.humpath.2026.106216_bib145","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1158\/2643-3230.BCD-20-0229","article-title":"Clinical significance of novel subtypes of acute lymphoblastic leukemia in the context of minimal residual disease-directed therapy","volume":"2","author":"Jeha","year":"2021","journal-title":"Blood Cancer Discov"},{"issue":"1","key":"10.1016\/j.humpath.2026.106216_bib146","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1200\/JCO.2017.74.0449","article-title":"Genotype-specific minimal residual disease interpretation improves stratification in pediatric acute lymphoblastic leukemia","volume":"36","author":"O'Connor","year":"2018","journal-title":"J Clin Oncol"},{"key":"10.1016\/j.humpath.2026.106216_bib147","doi-asserted-by":"crossref","DOI":"10.1182\/blood.2025032645","article-title":"Genetics and MRD for therapy allocation in adults with Philadelphia chromosome-negative acute lymphoblastic leukemia","author":"Ribera","year":"2026","journal-title":"Blood"},{"issue":"1","key":"10.1016\/j.humpath.2026.106216_bib148","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1038\/s41408-025-01373-y","article-title":"Prognostic impact of early NGS MRD dynamics and cytomolecular risk in newly diagnosed B-cell ALL","volume":"15","author":"Short","year":"2025","journal-title":"Blood Cancer J"}],"container-title":["Human Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0046817726001851?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0046817726001851?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,8,8]],"date-time":"2026-08-08T04:12:27Z","timestamp":1786162347000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0046817726001851"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7]]},"references-count":148,"alternative-id":["S0046817726001851"],"URL":"https:\/\/doi.org\/10.1016\/j.humpath.2026.106216","relation":{},"ISSN":["0046-8177"],"issn-type":[{"value":"0046-8177","type":"print"}],"subject":[],"published":{"date-parts":[[2026,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Molecular subtypes and genetic diagnostics in B-cell acute lymphoblastic leukemia","name":"articletitle","label":"Article Title"},{"value":"Human Pathology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.humpath.2026.106216","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"106216"}}