{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T06:51:46Z","timestamp":1792651906823,"version":"4.5.0"},"reference-count":123,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,11,29]],"date-time":"2022-11-29T00:00:00Z","timestamp":1669680000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2022,11,29]],"date-time":"2022-11-29T00:00:00Z","timestamp":1669680000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Virchows Arch"],"published-print":{"date-parts":[[2023,1]]},"DOI":"10.1007\/s00428-022-03447-9","type":"journal-article","created":{"date-parts":[[2022,11,29]],"date-time":"2022-11-29T08:04:52Z","timestamp":1669709092000},"page":"113-130","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":74,"title":["The International Consensus Classification (ICC) of hematologic neoplasms with germline predisposition, pediatric myelodysplastic syndrome, and juvenile myelomonocytic leukemia"],"prefix":"10.1007","volume":"482","author":[{"given":"Martina","family":"Rudelius","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga K.","family":"Weinberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte M.","family":"Niemeyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akiko","family":"Shimamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0771-4191","authenticated-orcid":false,"given":"Katherine R.","family":"Calvo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,11,29]]},"reference":[{"issue":"11","key":"3447_CR1","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1182\/blood.2022015850","volume":"140","author":"DA Arber","year":"2022","unstructured":"Arber DA, Orazi A, Hasserjian RP et al (2022) International Consensus Classification of myeloid neoplasms and acute leukemias: integrating morphologic, clinical, and genomic data. Blood 140(11):1200\u20131228","journal-title":"Blood"},{"issue":"4","key":"3447_CR2","doi-asserted-by":"crossref","first-page":"1020","DOI":"10.1038\/leu.2017.44","volume":"31","author":"S Kobayashi","year":"2017","unstructured":"Kobayashi S, Kobayashi A, Osawa Y et al (2017) Donor cell leukemia arising from preleukemic clones with a novel germline DDX41 mutation after allogenic hematopoietic stem cell transplantation. Leukemia 31(4):1020\u20131022","journal-title":"Leukemia"},{"issue":"18","key":"3447_CR3","doi-asserted-by":"crossref","first-page":"1994","DOI":"10.1182\/blood-2018-07-861070","volume":"132","author":"P Galera","year":"2018","unstructured":"Galera P, Hsu AP, Wang W et al (2018) Donor-derived MDS\/AML in families with germline GATA2 mutation. Blood 132(18):1994\u20131998","journal-title":"Blood"},{"issue":"19","key":"3447_CR4","doi-asserted-by":"crossref","first-page":"5257","DOI":"10.1182\/blood-2010-12-326322","volume":"117","author":"H Xiao","year":"2011","unstructured":"Xiao H, Shi J, Luo Y et al (2011) First report of multiple CEBPA mutations contributing to donor origin of leukemia relapse after allogeneic hematopoietic stem cell transplantation. Blood 117(19):5257\u20135260","journal-title":"Blood"},{"issue":"12","key":"3447_CR5","doi-asserted-by":"crossref","first-page":"4639","DOI":"10.1182\/blood-2008-05-156745","volume":"112","author":"CJ Owen","year":"2008","unstructured":"Owen CJ, Toze CL, Koochin A et al (2008) Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. Blood 112(12):4639\u20134645","journal-title":"Blood"},{"issue":"4","key":"3447_CR6","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1182\/blood-2003-02-0477","volume":"102","author":"K Keeshan","year":"2003","unstructured":"Keeshan K, Santilli G, Corradini F, Perrotti D, Calabretta B (2003) Transcription activation function of C\/EBPalpha is required for induction of granulocytic differentiation. Blood 102(4):1267\u20131275","journal-title":"Blood"},{"issue":"17","key":"3447_CR7","doi-asserted-by":"crossref","first-page":"5303","DOI":"10.1158\/1078-0432.CCR-08-2941","volume":"15","author":"T Pabst","year":"2009","unstructured":"Pabst T, Mueller BU (2009) Complexity of CEBPA dysregulation in human acute myeloid leukemia. Clin Cancer Res 15(17):5303\u20135307","journal-title":"Clin Cancer Res"},{"issue":"10","key":"3447_CR8","doi-asserted-by":"crossref","first-page":"1214","DOI":"10.1182\/blood-2015-05-647172","volume":"126","author":"K Tawana","year":"2015","unstructured":"Tawana K, Wang J, Renneville A et al (2015) Disease evolution and outcomes in familial AML with germline CEBPA mutations. Blood 126(10):1214\u20131223","journal-title":"Blood"},{"issue":"7","key":"3447_CR9","doi-asserted-by":"crossref","first-page":"846","DOI":"10.3324\/haematol.2015.130799","volume":"101","author":"A Pathak","year":"2016","unstructured":"Pathak A, Seipel K, Pemov A et al (2016) Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family. Haematologica 101(7):846\u2013852","journal-title":"Haematologica"},{"issue":"31","key":"3447_CR10","doi-asserted-by":"crossref","first-page":"5088","DOI":"10.1200\/JCO.2008.16.5563","volume":"26","author":"T Pabst","year":"2008","unstructured":"Pabst T, Eyholzer M, Haefliger S, Schardt J, Mueller BU (2008) Somatic CEBPA mutations are a frequent second event in families with germline CEBPA mutations and familial acute myeloid leukemia. J Clin Oncol 26(31):5088\u20135093","journal-title":"J Clin Oncol"},{"issue":"15","key":"3447_CR11","doi-asserted-by":"crossref","first-page":"4168","DOI":"10.1093\/nar\/gkl468","volume":"34","author":"P Linder","year":"2006","unstructured":"Linder P (2006) Dead-box proteins: a family affair\u2014active and passive players in RNP-remodeling. Nucleic Acids Res 34(15):4168\u20134180","journal-title":"Nucleic Acids Res"},{"issue":"5","key":"3447_CR12","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1016\/j.ccell.2015.03.017","volume":"27","author":"C Polprasert","year":"2015","unstructured":"Polprasert C, Schulze I, Sekeres MA et al (2015) Inherited and somatic defects in DDX41 in myeloid neoplasms. Cancer Cell 27(5):658\u2013670","journal-title":"Cancer Cell"},{"issue":"8","key":"3447_CR13","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1182\/blood-2015-10-676098","volume":"127","author":"M Lewinsohn","year":"2016","unstructured":"Lewinsohn M, Brown AL, Weinel LM et al (2016) Novel germ line DDX41 mutations define families with a lower age of MDS\/AML onset and lymphoid malignancies. Blood 127(8):1017\u20131023","journal-title":"Blood"},{"key":"3447_CR14","doi-asserted-by":"crossref","unstructured":"Guha T, Malkin D (2017) Inherited TP53 mutations and the Li-Fraumeni syndrome. Cold Spring Harb Perspect Med 7(4).","DOI":"10.1101\/cshperspect.a026187"},{"issue":"3","key":"3447_CR15","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1038\/ng.2532","volume":"45","author":"L Holmfeldt","year":"2013","unstructured":"Holmfeldt L, Wei L, Diaz-Flores E et al (2013) The genomic landscape of hypodiploid acute lymphoblastic leukemia. Nat Genet 45(3):242\u2013252","journal-title":"Nat Genet"},{"issue":"21","key":"3447_CR16","doi-asserted-by":"crossref","first-page":"2345","DOI":"10.1200\/JCO.2014.59.5728","volume":"33","author":"G Bougeard","year":"2015","unstructured":"Bougeard G, Renaux-Petel M, Flaman JM et al (2015) Revisiting Li-Fraumeni syndrome from TP53 mutation carriers. J Clin Oncol 33(21):2345\u20132352","journal-title":"J Clin Oncol"},{"issue":"18","key":"3447_CR17","first-page":"5358","volume":"48","author":"FP Li","year":"1988","unstructured":"Li FP, Fraumeni JF Jr, Mulvihill JJ et al (1988) A cancer family syndrome in twenty-four kindreds. Cancer Res 48(18):5358\u20135362","journal-title":"Cancer Res"},{"issue":"23 Pt 1","key":"3447_CR18","first-page":"6385","volume":"51","author":"JC Law","year":"1991","unstructured":"Law JC, Strong LC, Chidambaram A, Ferrell RE (1991) A germ line mutation in exon 5 of the p53 gene in an extended cancer family. Cancer Res 51(23 Pt 1):6385\u20136387","journal-title":"Cancer Res"},{"issue":"34","key":"3447_CR19","doi-asserted-by":"crossref","first-page":"4621","DOI":"10.1038\/sj.onc.1204621","volume":"20","author":"JM Birch","year":"2001","unstructured":"Birch JM, Alston RD, McNally RJ et al (2001) Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene 20(34):4621\u20134628","journal-title":"Oncogene"},{"issue":"7","key":"3447_CR20","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.5858\/2009-0015-OA.1","volume":"134","author":"SS Talwalkar","year":"2010","unstructured":"Talwalkar SS, Yin CC, Naeem RC, Hicks MJ, Strong LC, Abruzzo LV (2010) Myelodysplastic syndromes arising in patients with germline TP53 mutation and Li-Fraumeni syndrome. Arch Pathol Lab Med 134(7):1010\u20131015","journal-title":"Arch Pathol Lab Med"},{"issue":"4","key":"3447_CR21","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1053\/j.seminoncol.2008.04.012","volume":"35","author":"LA Godley","year":"2008","unstructured":"Godley LA, Larson RA (2008) Therapy-related myeloid leukemia. Semin Oncol 35(4):418\u2013429","journal-title":"Semin Oncol"},{"issue":"10","key":"3447_CR22","doi-asserted-by":"crossref","first-page":"1661","DOI":"10.3324\/haematol.2017.167726","volume":"102","author":"R Kanagal-Shamanna","year":"2017","unstructured":"Kanagal-Shamanna R, Loghavi S, DiNardo CD et al (2017) Bone marrow pathologic abnormalities in familial platelet disorder with propensity for myeloid malignancy and germline RUNX1 mutation. Haematologica 102(10):1661\u20131670","journal-title":"Haematologica"},{"issue":"2","key":"3447_CR23","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1172\/JCI71861","volume":"124","author":"D Bluteau","year":"2014","unstructured":"Bluteau D, Balduini A, Balayn N et al (2014) Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation. J Clin Invest 124(2):580\u2013591","journal-title":"J Clin Invest"},{"issue":"12","key":"3447_CR24","doi-asserted-by":"crossref","first-page":"2388","DOI":"10.1111\/jth.13855","volume":"15","author":"C Zaninetti","year":"2017","unstructured":"Zaninetti C, Santini V, Tiniakou M, Barozzi S, Savoia A, Pecci A (2017) Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases J. Thromb Haemost 15(12):2388\u20132392","journal-title":"Thromb Haemost"},{"issue":"2","key":"3447_CR25","doi-asserted-by":"crossref","first-page":"282","DOI":"10.3324\/haematol.2016.147694","volume":"102","author":"M Poggi","year":"2017","unstructured":"Poggi M, Canault M, Favier M et al (2017) Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors. Haematologica 102(2):282\u2013294","journal-title":"Haematologica"},{"issue":"13","key":"3447_CR26","doi-asserted-by":"crossref","first-page":"2708","DOI":"10.1182\/blood-2012-04-422337","volume":"120","author":"D Bluteau","year":"2012","unstructured":"Bluteau D, Glembotsky AC, Raimbault A et al (2012) Dysmegakaryopoiesis of FPD\/AML pedigrees with constitutional RUNX1 mutations is linked to myosin II deregulated expression. Blood 120(13):2708\u20132718","journal-title":"Blood"},{"issue":"2","key":"3447_CR27","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1038\/13793","volume":"23","author":"WJ Song","year":"1999","unstructured":"Song WJ, Sullivan MG, Legare RD et al (1999) Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 23(2):166\u2013175","journal-title":"Nat Genet"},{"issue":"2","key":"3447_CR28","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1053\/j.seminhematol.2017.04.006","volume":"54","author":"B Schlegelberger","year":"2017","unstructured":"Schlegelberger B, Heller PG (2017) RUNX1 deficiency (familial platelet disorder with predisposition to myeloid leukemia, FPDMM). Semin Hematol 54(2):75\u201380","journal-title":"Semin Hematol"},{"issue":"1","key":"3447_CR29","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.ajhg.2010.12.006","volume":"88","author":"T Pippucci","year":"2011","unstructured":"Pippucci T, Savoia A, Perrotta S et al (2011) Mutations in the 5\u2032 UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. Am J Hum Genet 88(1):115\u2013120","journal-title":"Am J Hum Genet"},{"issue":"24","key":"3447_CR30","doi-asserted-by":"crossref","first-page":"6673","DOI":"10.1182\/blood-2011-02-336537","volume":"117","author":"P Noris","year":"2011","unstructured":"Noris P, Perrotta S, Seri M et al (2011) Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood 117(24):6673\u20136680","journal-title":"Blood"},{"issue":"11","key":"3447_CR31","doi-asserted-by":"crossref","first-page":"1987","DOI":"10.1182\/blood-2013-04-499319","volume":"122","author":"P Noris","year":"2013","unstructured":"Noris P, Favier R, Alessi MC et al (2013) ANKRD26-related thrombocytopenia and myeloid malignancies. Blood 122(11):1987\u20131989","journal-title":"Blood"},{"issue":"2","key":"3447_CR32","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1038\/ng.3177","volume":"47","author":"MY Zhang","year":"2015","unstructured":"Zhang MY, Churpek JE, Keel SB et al (2015) Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nat Genet 47(2):180\u2013185","journal-title":"Nat Genet"},{"issue":"5","key":"3447_CR33","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1038\/ng.3253","volume":"47","author":"L Noetzli","year":"2015","unstructured":"Noetzli L, Lo RW, Lee-Sherick AB et al (2015) Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. Nat Genet 47(5):535\u2013538","journal-title":"Nat Genet"},{"issue":"10","key":"3447_CR34","doi-asserted-by":"crossref","first-page":"2653","DOI":"10.1182\/blood-2011-05-356352","volume":"118","author":"AP Hsu","year":"2011","unstructured":"Hsu AP, Sampaio EP, Khan J et al (2011) Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood 118(10):2653\u20132655","journal-title":"Blood"},{"issue":"10","key":"3447_CR35","doi-asserted-by":"crossref","first-page":"2656","DOI":"10.1182\/blood-2011-06-360313","volume":"118","author":"RE Dickinson","year":"2011","unstructured":"Dickinson RE, Griffin H, Bigley V et al (2011) Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte B and NK lymphoid deficiency. Blood 118(10):2656\u20132658","journal-title":"Blood"},{"issue":"10","key":"3447_CR36","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1038\/ng.913","volume":"43","author":"CN Hahn","year":"2011","unstructured":"Hahn CN, Chong CE, Carmichael CL et al (2011) Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat Genet 43(10):1012\u20131017","journal-title":"Nat Genet"},{"issue":"10","key":"3447_CR37","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1038\/ng.923","volume":"43","author":"P Ostergaard","year":"2011","unstructured":"Ostergaard P, Simpson MA, Connell FC et al (2011) Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat Genet 43(10):929\u2013931","journal-title":"Nat Genet"},{"issue":"6","key":"3447_CR38","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1182\/blood-2013-07-515528","volume":"123","author":"MA Spinner","year":"2014","unstructured":"Spinner MA, Sanchez LA, Hsu AP et al (2014) GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood 123(6):809\u2013821","journal-title":"Blood"},{"issue":"2","key":"3447_CR39","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1053\/j.seminhematol.2017.05.002","volume":"54","author":"MW Wlodarski","year":"2017","unstructured":"Wlodarski MW, Collin M, Horwitz MS (2017) GATA2 deficiency and related myeloid neoplasms. Semin Hematol 54(2):81\u201386","journal-title":"Semin Hematol"},{"key":"3447_CR40","doi-asserted-by":"crossref","unstructured":"Wlodarski MW, Hirabayashi S, Pastor V et al (2016) Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents. Blood 127(11):1387\u20131397; quiz 1518.","DOI":"10.1182\/blood-2015-09-669937"},{"issue":"5","key":"3447_CR41","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1182\/blood-2012-08-447367","volume":"121","author":"M Pasquet","year":"2013","unstructured":"Pasquet M, Bellanne-Chantelot C, Tavitian S et al (2013) High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia. Blood 121(5):822\u2013829","journal-title":"Blood"},{"issue":"7","key":"3447_CR42","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1182\/blood-2017-09-806489","volume":"131","author":"O Bluteau","year":"2018","unstructured":"Bluteau O, Sebert M, Leblanc T et al (2018) A landscape of germ line mutations in a cohort of inherited bone marrow failure patients. Blood 131(7):717\u2013732","journal-title":"Blood"},{"issue":"6","key":"3447_CR43","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1182\/blood-2013-07-517151","volume":"123","author":"RE Dickinson","year":"2014","unstructured":"Dickinson RE, Milne P, Jardine L et al (2014) The evolution of cellular deficiency in GATA2 mutation. Blood 123(6):863\u2013874","journal-title":"Blood"},{"issue":"10","key":"3447_CR44","doi-asserted-by":"crossref","first-page":"1844","DOI":"10.1002\/pbc.26084","volume":"63","author":"AK Koegel","year":"2016","unstructured":"Koegel AK, Hofmann I, Moffitt K, Degar B, Duncan C, Tubman VN (2016) Acute lymphoblastic leukemia in a patient with MonoMAC syndrome\/GATA2 haploinsufficiency. Pediatr Blood Cancer 63(10):1844\u20131847","journal-title":"Pediatr Blood Cancer"},{"issue":"6","key":"3447_CR45","doi-asserted-by":"crossref","first-page":"e27649","DOI":"10.1002\/pbc.27649","volume":"66","author":"O Esparza","year":"2019","unstructured":"Esparza O, Xavier AC, Atkinson TP, Hill BC, Whelan K (2019) A unique phenotype of T-cell acute lymphoblastic leukemia in a patient with GATA2 haploinsufficiency. Pediatr Blood Cancer 66(6):e27649","journal-title":"Pediatr Blood Cancer"},{"issue":"8","key":"3447_CR46","doi-asserted-by":"crossref","first-page":"1221","DOI":"10.3324\/haematol.2011.041152","volume":"96","author":"KR Calvo","year":"2011","unstructured":"Calvo KR, Vinh DC, Maric I et al (2011) Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implications. Haematologica 96(8):1221\u20131225","journal-title":"Haematologica"},{"issue":"1","key":"3447_CR47","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1182\/blood-2014-06-580340","volume":"125","author":"KA Ganapathi","year":"2015","unstructured":"Ganapathi KA, Townsley DM, Hsu AP et al (2015) GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia. Blood 125(1):56\u201370","journal-title":"Blood"},{"issue":"7","key":"3447_CR48","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1038\/ng.3569","volume":"48","author":"S Narumi","year":"2016","unstructured":"Narumi S, Amano N, Ishii T et al (2016) SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. Nat Genet 48(7):792\u2013797","journal-title":"Nat Genet"},{"issue":"6","key":"3447_CR49","doi-asserted-by":"crossref","first-page":"1146","DOI":"10.1016\/j.ajhg.2016.04.009","volume":"98","author":"DH Chen","year":"2016","unstructured":"Chen DH, Below JE, Shimamura A et al (2016) Ataxia-pancytopenia syndrome is caused by missense mutations in SAMD9L. Am J Hum Genet 98(6):1146\u20131158","journal-title":"Am J Hum Genet"},{"issue":"10","key":"3447_CR50","doi-asserted-by":"crossref","first-page":"1806","DOI":"10.1038\/s41591-021-01511-6","volume":"27","author":"SS Sahoo","year":"2021","unstructured":"Sahoo SS, Pastor VB, Goodings C et al (2021) Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9\/SAMD9L syndromes. Nat Med 27(10):1806\u20131817","journal-title":"Nat Med"},{"issue":"1","key":"3447_CR51","doi-asserted-by":"crossref","first-page":"1557","DOI":"10.1038\/s41467-017-01590-5","volume":"8","author":"JR Schwartz","year":"2017","unstructured":"Schwartz JR, Ma J, Lamprecht T et al (2017) The genomic landscape of pediatric myelodysplastic syndromes. Nat Commun 8(1):1557","journal-title":"Nat Commun"},{"issue":"4","key":"3447_CR52","doi-asserted-by":"crossref","first-page":"1669","DOI":"10.1172\/JCI129301","volume":"130","author":"AA de Jesus","year":"2020","unstructured":"de Jesus AA, Hou Y, Brooks S et al (2020) Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases. J Clin Invest 130(4):1669\u20131682","journal-title":"J Clin Invest"},{"issue":"7","key":"3447_CR53","doi-asserted-by":"crossref","first-page":"e318","DOI":"10.3324\/haematol.2018.207316","volume":"104","author":"JJC Cheah","year":"2019","unstructured":"Cheah JJC, Brown AL, Schreiber AW et al (2019) A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia. Haematologica 104(7):e318\u2013e321","journal-title":"Haematologica"},{"issue":"3","key":"3447_CR54","doi-asserted-by":"crossref","first-page":"101197","DOI":"10.1016\/j.beha.2020.101197","volume":"33","author":"SS Sahoo","year":"2020","unstructured":"Sahoo SS, Kozyra EJ, Wlodarski MW (2020) Germline predisposition in myeloid neoplasms: unique genetic and clinical features of GATA2 deficiency and SAMD9\/SAMD9L syndromes. Best Pract Res Clin Haematol 33(3):101197","journal-title":"Best Pract Res Clin Haematol"},{"key":"3447_CR55","doi-asserted-by":"crossref","unstructured":"Wong JC, Bryant V, Lamprecht T et al (2018) Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes. JCI Insight 3(14).","DOI":"10.1172\/jci.insight.121086"},{"issue":"6","key":"3447_CR56","doi-asserted-by":"crossref","first-page":"1520","DOI":"10.1002\/ajmg.a.37637","volume":"170","author":"BP Alter","year":"2016","unstructured":"Alter BP, Giri N (2016) Thinking of VACTERL-H? Rule out Fanconi anemia according to PHENOS. Am J Med Genet A 170(6):1520\u20131524","journal-title":"Am J Med Genet A"},{"issue":"2","key":"3447_CR57","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1182\/blood-2004-01-0083","volume":"104","author":"PS Rosenberg","year":"2004","unstructured":"Rosenberg PS, Huang Y, Alter BP (2004) Individualized risks of first adverse events in patients with Fanconi anemia. Blood 104(2):350\u2013355","journal-title":"Blood"},{"issue":"2","key":"3447_CR58","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1111\/j.1365-2141.2010.08212.x","volume":"150","author":"BP Alter","year":"2010","unstructured":"Alter BP, Giri N, Savage SA et al (2010) Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. Br J Haematol 150(2):179\u2013188","journal-title":"Br J Haematol"},{"issue":"3\u20134","key":"3447_CR59","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1016\/j.beha.2014.10.002","volume":"27","author":"BP Alter","year":"2014","unstructured":"Alter BP (2014) Fanconi anemia and the development of leukemia. Best Pract Res Clin Haematol 27(3\u20134):214\u2013221","journal-title":"Best Pract Res Clin Haematol"},{"key":"3447_CR60","doi-asserted-by":"crossref","first-page":"17032","DOI":"10.1038\/nrdp.2017.32","volume":"3","author":"J Skokowa","year":"2017","unstructured":"Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K (2017) Severe congenital neutropenias. Nat Rev Dis Primers 3:17032","journal-title":"Nat Rev Dis Primers"},{"issue":"12","key":"3447_CR61","doi-asserted-by":"crossref","first-page":"4628","DOI":"10.1182\/blood-2005-11-4370","volume":"107","author":"PS Rosenberg","year":"2006","unstructured":"Rosenberg PS, Alter BP, Bolyard AA et al (2006) The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. Blood 107(12):4628\u20134635","journal-title":"Blood"},{"issue":"2","key":"3447_CR62","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1111\/j.1365-2141.2010.08216.x","volume":"150","author":"PS Rosenberg","year":"2010","unstructured":"Rosenberg PS, Zeidler C, Bolyard AA et al (2010) Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy. Br J Haematol 150(2):196\u2013199","journal-title":"Br J Haematol"},{"key":"3447_CR63","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1182\/asheducation-2015.1.1","volume":"2015","author":"IP Touw","year":"2015","unstructured":"Touw IP (2015) Game of clones: the genomic evolution of severe congenital neutropenia. Hematol Am Soc Hematol Educ Program 2015:1\u20137","journal-title":"Hematol Am Soc Hematol Educ Program"},{"issue":"1","key":"3447_CR64","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/ng1062","volume":"33","author":"GR Boocock","year":"2003","unstructured":"Boocock GR, Morrison JA, Popovic M et al (2003) Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet 33(1):97\u2013101","journal-title":"Nat Genet"},{"issue":"1","key":"3447_CR65","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1182\/bloodadvances.2021005539","volume":"6","author":"E Furutani","year":"2022","unstructured":"Furutani E, Liu S, Galvin A et al (2022) Hematologic complications with age in Shwachman-Diamond syndrome. Blood Adv 6(1):297\u2013306","journal-title":"Blood Adv"},{"issue":"4","key":"3447_CR66","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1016\/j.jpeds.2013.11.039","volume":"164","author":"KC Myers","year":"2014","unstructured":"Myers KC, Bolyard AA, Otto B et al (2014) Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry. J Pediatr 164(4):866\u2013870","journal-title":"J Pediatr"},{"issue":"3","key":"3447_CR67","doi-asserted-by":"crossref","first-page":"e238","DOI":"10.1016\/S2352-3026(19)30206-6","volume":"7","author":"KC Myers","year":"2020","unstructured":"Myers KC, Furutani E, Weller E et al (2020) Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study. Lancet Haematol 7(3):e238\u2013e246","journal-title":"Lancet Haematol"},{"issue":"4","key":"3447_CR68","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1002\/gcc.20301","volume":"45","author":"E Maserati","year":"2006","unstructured":"Maserati E, Minelli A, Pressato B et al (2006) Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia\/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies. Genes Chromosomes Cancer 45(4):375\u2013382","journal-title":"Genes Chromosomes Cancer"},{"issue":"5","key":"3447_CR69","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1111\/j.1399-0004.2010.01468.x","volume":"79","author":"SK Hashmi","year":"2011","unstructured":"Hashmi SK, Allen C, Klaassen R et al (2011) Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation. Clin Genet 79(5):448\u2013458","journal-title":"Clin Genet"},{"issue":"9","key":"3447_CR70","doi-asserted-by":"crossref","first-page":"1312","DOI":"10.3324\/haematol.2011.057489","volume":"97","author":"J Donadieu","year":"2012","unstructured":"Donadieu J, Fenneteau O, Beaupain B et al (2012) Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome. Haematologica 97(9):1312\u20131319","journal-title":"Haematologica"},{"issue":"1","key":"3447_CR71","doi-asserted-by":"crossref","first-page":"1334","DOI":"10.1038\/s41467-021-21588-4","volume":"12","author":"AL Kennedy","year":"2021","unstructured":"Kennedy AL, Myers KC, Bowman J et al (2021) Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome. Nat Commun 12(1):1334","journal-title":"Nat Commun"},{"key":"3447_CR72","doi-asserted-by":"crossref","unstructured":"Dokal I, Vulliamy T, Mason P, Bessler M (2015) Clinical utility gene card for: dyskeratosis congenita - update 2015. Eur J Hum Genet 23(4).","DOI":"10.1038\/ejhg.2014.170"},{"issue":"3","key":"3447_CR73","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1586\/ehm.13.23","volume":"6","author":"BJ Ballew","year":"2013","unstructured":"Ballew BJ, Savage SA (2013) Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev Hematol 6(3):327\u2013337","journal-title":"Expert Rev Hematol"},{"issue":"8","key":"3447_CR74","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1080\/15476286.2015.1094596","volume":"13","author":"AA Bertuch","year":"2016","unstructured":"Bertuch AA (2016) The molecular genetics of the telomere biology disorders. RNA Biol 13(8):696\u2013706","journal-title":"RNA Biol"},{"issue":"12","key":"3447_CR75","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1080\/17474086.2019.1662720","volume":"12","author":"MR Niewisch","year":"2019","unstructured":"Niewisch MR, Savage SA (2019) An update on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev Hematol 12(12):1037\u20131052","journal-title":"Expert Rev Hematol"},{"issue":"1","key":"3447_CR76","doi-asserted-by":"crossref","first-page":"30","DOI":"10.3324\/haematol.2017.178111","volume":"103","author":"BP Alter","year":"2018","unstructured":"Alter BP, Giri N, Savage SA, Rosenberg PS (2018) Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up. Haematologica 103(1):30\u201339","journal-title":"Haematologica"},{"issue":"24","key":"3447_CR77","doi-asserted-by":"crossref","first-page":"2353","DOI":"10.1056\/NEJMra0903373","volume":"361","author":"RT Calado","year":"2009","unstructured":"Calado RT, Young NS (2009) Telomere diseases. N Engl J Med 361(24):2353\u20132365","journal-title":"N Engl J Med"},{"issue":"6","key":"3447_CR78","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1111\/j.1365-2141.2008.07269.x","volume":"142","author":"A Vlachos","year":"2008","unstructured":"Vlachos A, Ball S, Dahl N et al (2008) Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol 142(6):859\u2013876","journal-title":"Br J Haematol"},{"issue":"8","key":"3447_CR79","doi-asserted-by":"crossref","first-page":"e28984","DOI":"10.1002\/pbc.28984","volume":"68","author":"JM Lipton","year":"2021","unstructured":"Lipton JM, Molmenti CLS, Hussain M et al (2021) Colorectal cancer screening and surveillance strategy for patients with Diamond Blackfan anemia: preliminary recommendations from the Diamond Blackfan Anemia Registry. Pediatr Blood Cancer 68(8):e28984","journal-title":"Pediatr Blood Cancer"},{"issue":"16","key":"3447_CR80","doi-asserted-by":"crossref","first-page":"3815","DOI":"10.1182\/blood-2011-08-375972","volume":"119","author":"A Vlachos","year":"2012","unstructured":"Vlachos A, Rosenberg PS, Atsidaftos E, Alter BP, Lipton JM (2012) Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry. Blood 119(16):3815\u20133819","journal-title":"Blood"},{"issue":"19","key":"3447_CR81","doi-asserted-by":"crossref","first-page":"3715","DOI":"10.1182\/blood-2010-02-251090","volume":"116","author":"A Vlachos","year":"2010","unstructured":"Vlachos A, Muir E (2010) How I treat Diamond-Blackfan anemia. Blood 116(19):3715\u20133723","journal-title":"Blood"},{"issue":"1","key":"3447_CR82","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1038\/nrc1525","volume":"5","author":"JK Hitzler","year":"2005","unstructured":"Hitzler JK, Zipursky A (2005) Origins of leukaemia in children with Down syndrome. Nat Rev Cancer 5(1):11\u201320","journal-title":"Nat Rev Cancer"},{"issue":"3","key":"3447_CR83","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1016\/j.ejmg.2015.11.010","volume":"59","author":"S Izraeli","year":"2016","unstructured":"Izraeli S (2016) The acute lymphoblastic leukemia of Down syndrome\u2014genetics and pathogenesis. Eur J Med Genet 59(3):158\u2013161","journal-title":"Eur J Med Genet"},{"issue":"10","key":"3447_CR84","doi-asserted-by":"crossref","first-page":"1226","DOI":"10.1038\/ng.2754","volume":"45","author":"S Shah","year":"2013","unstructured":"Shah S, Schrader KA, Waanders E et al (2013) A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nat Genet 45(10):1226\u20131231","journal-title":"Nat Genet"},{"key":"3447_CR85","doi-asserted-by":"crossref","unstructured":"Churchman ML, Qian M, Te Kronnie G et al (2018) Germline Genetic IKZF1 variation and predisposition to childhood acute lymphoblastic leukemia. Cancer Cell 33(5):937\u2013948 e938.","DOI":"10.1016\/j.ccell.2018.03.021"},{"issue":"3","key":"3447_CR86","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.ejmg.2015.12.008","volume":"59","author":"P Schutte","year":"2016","unstructured":"Schutte P, Moricke A, Zimmermann M et al (2016) Preexisting conditions in pediatric ALL patients: spectrum, frequency and clinical impact. Eur J Med Genet 59(3):143\u2013151","journal-title":"Eur J Med Genet"},{"issue":"5","key":"3447_CR87","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1038\/s41375-021-01163-y","volume":"35","author":"G Winter","year":"2021","unstructured":"Winter G, Kirschner-Schwabe R, Groeneveld-Krentz S et al (2021) Clinical and genetic characteristics of children with acute lymphoblastic leukemia and Li-Fraumeni syndrome. Leukemia 35(5):1475\u20131479","journal-title":"Leukemia"},{"issue":"5","key":"3447_CR88","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1038\/leu.2013.363","volume":"28","author":"F Auer","year":"2014","unstructured":"Auer F, Ruschendorf F, Gombert M et al (2014) Inherited susceptibility to pre B-ALL caused by germline transmission of PAX5 c.547G>A. Leukemia 28(5):1136\u20131138","journal-title":"Leukemia"},{"issue":"11","key":"3447_CR89","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.1056\/NEJMoa1512234","volume":"374","author":"HS Kuehn","year":"2016","unstructured":"Kuehn HS, Boisson B, Cunningham-Rundles C et al (2016) Loss of B cells in patients with heterozygous mutations in IKAROS. N Engl J Med 374(11):1032\u20131043","journal-title":"N Engl J Med"},{"issue":"25","key":"3447_CR90","doi-asserted-by":"crossref","first-page":"2718","DOI":"10.1182\/blood-2019-01-895698","volume":"133","author":"A Sarasin","year":"2019","unstructured":"Sarasin A, Quentin S, Droin N et al (2019) Familial predisposition to TP53\/complex karyotype MDS and leukemia in DNA repair-deficient xeroderma pigmentosum. Blood 133(25):2718\u20132724","journal-title":"Blood"},{"issue":"4","key":"3447_CR91","doi-asserted-by":"crossref","first-page":"e144","DOI":"10.3324\/haematol.2019.223370","volume":"105","author":"KA Oetjen","year":"2020","unstructured":"Oetjen KA, Levoska MA, Tamura D et al (2020) Predisposition to hematologic malignancies in patients with xeroderma pigmentosum. Haematologica 105(4):e144\u2013e146","journal-title":"Haematologica"},{"issue":"1","key":"3447_CR92","doi-asserted-by":"crossref","first-page":"42","DOI":"10.3324\/haematol.2014.113456","volume":"100","author":"MY Zhang","year":"2015","unstructured":"Zhang MY, Keel SB, Walsh T et al (2015) Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity. Haematologica 100(1):42\u201348","journal-title":"Haematologica"},{"issue":"3","key":"3447_CR93","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1038\/leu.2016.342","volume":"31","author":"V Pastor","year":"2017","unstructured":"Pastor V, Hirabayashi S, Karow A et al (2017) Mutational landscape in children with myelodysplastic syndromes is distinct from adults: specific somatic drivers and novel germline variants. Leukemia 31(3):759\u2013762","journal-title":"Leukemia"},{"issue":"1","key":"3447_CR94","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1111\/j.1365-2559.2011.04156.x","volume":"61","author":"I Baumann","year":"2012","unstructured":"Baumann I, Fuhrer M, Behrendt S et al (2012) Morphological differentiation of severe aplastic anaemia from hypocellular refractory cytopenia of childhood: reproducibility of histopathological diagnostic criteria. Histopathology 61(1):10\u201317","journal-title":"Histopathology"},{"issue":"13","key":"3447_CR95","doi-asserted-by":"crossref","first-page":"1406","DOI":"10.1182\/blood-2017-09-765214","volume":"131","author":"F Locatelli","year":"2018","unstructured":"Locatelli F, Strahm B (2018) How I treat myelodysplastic syndromes of childhood. Blood 131(13):1406\u20131414","journal-title":"Blood"},{"issue":"6","key":"3447_CR96","doi-asserted-by":"crossref","first-page":"1997","DOI":"10.1182\/blood-2002-11-3444","volume":"102","author":"G Kardos","year":"2003","unstructured":"Kardos G, Baumann I, Passmore SJ et al (2003) Refractory anemia in childhood: a retrospective analysis of 67 patients with particular reference to monosomy 7. Blood 102(6):1997\u20132003","journal-title":"Blood"},{"issue":"5","key":"3447_CR97","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1111\/bjh.12955","volume":"166","author":"D Hasegawa","year":"2014","unstructured":"Hasegawa D, Chen X, Hirabayashi S et al (2014) Clinical characteristics and treatment outcome in 65 cases with refractory cytopenia of childhood defined according to the WHO 2008 classification. Br J Haematol 166(5):758\u2013766","journal-title":"Br J Haematol"},{"issue":"4","key":"3447_CR98","doi-asserted-by":"crossref","first-page":"656","DOI":"10.3324\/haematol.2013.095786","volume":"99","author":"A Yoshimi","year":"2014","unstructured":"Yoshimi A, van den Heuvel-Eibrink MM, Baumann I et al (2014) Comparison of horse and rabbit antithymocyte globulin in immunosuppressive therapy for refractory cytopenia of childhood. Haematologica 99(4):656\u2013663","journal-title":"Haematologica"},{"issue":"4","key":"3447_CR99","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1007\/s12185-016-1965-7","volume":"103","author":"D Hasegawa","year":"2016","unstructured":"Hasegawa D (2016) The current perspective of low-grade myelodysplastic syndrome in children. Int J Hematol 103(4):360\u2013364","journal-title":"Int J Hematol"},{"issue":"5","key":"3447_CR100","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1007\/s12185-014-1674-z","volume":"100","author":"K Moriwaki","year":"2014","unstructured":"Moriwaki K, Manabe A, Taketani T, Kikuchi A, Nakahata T, Hayashi Y (2014) Cytogenetics and clinical features of pediatric myelodysplastic syndrome in Japan. Int J Hematol 100(5):478\u2013484","journal-title":"Int J Hematol"},{"issue":"4","key":"3447_CR101","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1016\/j.hoc.2018.04.007","volume":"32","author":"MW Wlodarski","year":"2018","unstructured":"Wlodarski MW, Sahoo SS, Niemeyer CM (2018) Monosomy 7 in pediatric myelodysplastic syndromes. Hematol Oncol Clin North Am 32(4):729\u2013743","journal-title":"Hematol Oncol Clin North Am"},{"key":"3447_CR102","unstructured":"Niemeyer CM, Arico M, Basso G et al (1997) Chronic myelomonocytic leukemia in childhood: a retrospective analysis of 110 cases. European Working Group on Myelodysplastic Syndromes in Childhood (EWOG-MDS). Blood 89(10):3534\u20133543."},{"issue":"2","key":"3447_CR103","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1182\/blood.V93.2.459","volume":"93","author":"S Luna-Fineman","year":"1999","unstructured":"Luna-Fineman S, Shannon KM, Atwater SK et al (1999) Myelodysplastic and myeloproliferative disorders of childhood: a study of 167 patients. Blood 93(2):459\u2013466","journal-title":"Blood"},{"issue":"9","key":"3447_CR104","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1038\/ng.641","volume":"42","author":"CM Niemeyer","year":"2010","unstructured":"Niemeyer CM, Kang MW, Shin DH et al (2010) Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. Nat Genet 42(9):794\u2013800","journal-title":"Nat Genet"},{"issue":"8","key":"3447_CR105","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1002\/humu.22809","volume":"36","author":"S Martinelli","year":"2015","unstructured":"Martinelli S, Stellacci E, Pannone L et al (2015) Molecular diversity and associated phenotypic spectrum of germline CBL mutations. Hum Mutat 36(8):787\u2013796","journal-title":"Hum Mutat"},{"issue":"7","key":"3447_CR106","doi-asserted-by":"crossref","first-page":"1742","DOI":"10.1182\/blood.V85.7.1742.bloodjournal8571742","volume":"85","author":"SJ Passmore","year":"1995","unstructured":"Passmore SJ, Hann IM, Stiller CA et al (1995) Pediatric myelodysplasia: a study of 68 children and a new prognostic scoring system. Blood 85(7):1742\u20131750","journal-title":"Blood"},{"issue":"10","key":"3447_CR107","doi-asserted-by":"crossref","first-page":"1060","DOI":"10.1182\/blood-2018-11-844688","volume":"133","author":"CM Niemeyer","year":"2019","unstructured":"Niemeyer CM, Flotho C (2019) Juvenile myelomonocytic leukemia: who\u2019s the driver at the wheel? Blood 133(10):1060\u20131070","journal-title":"Blood"},{"issue":"22","key":"3447_CR108","doi-asserted-by":"crossref","first-page":"4783","DOI":"10.1182\/bloodadvances.2021005117","volume":"5","author":"A Wintering","year":"2021","unstructured":"Wintering A, Dvorak CC, Stieglitz E, Loh ML (2021) Juvenile myelomonocytic leukemia in the molecular era: a clinician\u2019s guide to diagnosis, risk stratification, and treatment. Blood Adv 5(22):4783\u20134793","journal-title":"Blood Adv"},{"issue":"10","key":"3447_CR109","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1136\/jmg.2010.076836","volume":"47","author":"B Perez","year":"2010","unstructured":"Perez B, Mechinaud F, Galambrun C et al (2010) Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia. J Med Genet 47(10):686\u2013691","journal-title":"J Med Genet"},{"issue":"1","key":"3447_CR110","doi-asserted-by":"crossref","first-page":"178","DOI":"10.3324\/haematol.2020.270595","volume":"107","author":"A Hecht","year":"2022","unstructured":"Hecht A, Meyer JA, Behnert A et al (2022) Molecular and phenotypic diversity of CBL-mutated juvenile myelomonocytic leukemia. Haematologica 107(1):178\u2013186","journal-title":"Haematologica"},{"issue":"3","key":"3447_CR111","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1203\/PDR.0b013e3181961d2a","volume":"65","author":"N Yoshida","year":"2009","unstructured":"Yoshida N, Yagasaki H, Xu Y et al (2009) Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia. Pediatr Res 65(3):334\u2013340","journal-title":"Pediatr Res"},{"issue":"7","key":"3447_CR112","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1182\/blood-2014-08-550483","volume":"125","author":"F Locatelli","year":"2015","unstructured":"Locatelli F, Niemeyer CM (2015) How I treat juvenile myelomonocytic leukemia. Blood 125(7):1083\u20131090","journal-title":"Blood"},{"key":"3447_CR113","doi-asserted-by":"crossref","unstructured":"Mayerhofer C, Niemeyer CM, Flotho C (2021) Current treatment of juvenile myelomonocytic leukemia. J Clin Med 10(14).","DOI":"10.3390\/jcm10143084"},{"issue":"18","key":"3447_CR114","doi-asserted-by":"crossref","first-page":"2753","DOI":"10.1182\/blood-2014-11-567917","volume":"125","author":"KR Calvo","year":"2015","unstructured":"Calvo KR, Price S, Braylan RC et al (2015) JMML and RALD (Ras-associated autoimmune leukoproliferative disorder): common genetic etiology yet clinically distinct entities. Blood 125(18):2753\u20132758","journal-title":"Blood"},{"issue":"6","key":"3447_CR115","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1038\/leu.2010.18","volume":"24","author":"S Rottgers","year":"2010","unstructured":"Rottgers S, Gombert M, Teigler-Schlegel A et al (2010) ALK fusion genes in children with atypical myeloproliferative leukemia. Leukemia 24(6):1197\u20131200","journal-title":"Leukemia"},{"issue":"14","key":"3447_CR116","doi-asserted-by":"crossref","first-page":"1576","DOI":"10.1182\/blood-2017-07-798157","volume":"131","author":"N Murakami","year":"2018","unstructured":"Murakami N, Okuno Y, Yoshida K et al (2018) Integrated molecular profiling of juvenile myelomonocytic leukemia. Blood 131(14):1576\u20131586","journal-title":"Blood"},{"issue":"5","key":"3447_CR117","doi-asserted-by":"crossref","first-page":"1104","DOI":"10.1038\/sj.leu.2404596","volume":"21","author":"A Buijs","year":"2007","unstructured":"Buijs A, Bruin M (2007) Fusion of FIP1L1 and RARA as a result of a novel t(4;17)(q12;q21) in a case of juvenile myelomonocytic leukemia. Leukemia 21(5):1104\u20131108","journal-title":"Leukemia"},{"issue":"4","key":"3447_CR118","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1182\/bloodadvances.2021004966","volume":"6","author":"O Miltiadous","year":"2022","unstructured":"Miltiadous O, Petrova-Drus K, Kaicker S et al (2022) Successful treatment and integrated genomic analysis of an infant with FIP1L1-RARA fusion-associated myeloid neoplasm. Blood Adv 6(4):1137\u20131142","journal-title":"Blood Adv"},{"issue":"2","key":"3447_CR119","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/0165-4608(92)90016-2","volume":"60","author":"N Bown","year":"1992","unstructured":"Bown N, Yule SM, Evans J, Kernahan J, Reid MM (1992) Chronic myelomonocytic leukemia with t(13;14) in a child. Cancer Genet Cytogenet 60(2):190\u2013192","journal-title":"Cancer Genet Cytogenet"},{"issue":"2","key":"3447_CR120","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1038\/s41375-019-0549-y","volume":"34","author":"AK Chao","year":"2020","unstructured":"Chao AK, Meyer JA, Lee AG et al (2020) Fusion driven JMML: a novel CCDC88C-FLT3 fusion responsive to sorafenib identified by RNA sequencing. Leukemia 34(2):662\u2013666","journal-title":"Leukemia"},{"issue":"10","key":"3447_CR121","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1136\/jmedgenet-2014-102611","volume":"51","author":"M Strullu","year":"2014","unstructured":"Strullu M, Caye A, Lachenaud J et al (2014) Juvenile myelomonocytic leukaemia and Noonan syndrome. J Med Genet 51(10):689\u2013697","journal-title":"J Med Genet"},{"key":"3447_CR122","doi-asserted-by":"crossref","unstructured":"O'Halloran K, Ritchey AK, Djokic M, Friehling E (2017) Transient juvenile myelomonocytic leukemia in the setting of PTPN11 mutation and Noonan syndrome with secondary development of monosomy 7. Pediatr Blood Cancer 64(7).","DOI":"10.1002\/pbc.26408"},{"issue":"4","key":"3447_CR123","doi-asserted-by":"crossref","first-page":"E83","DOI":"10.1111\/bjh.16191","volume":"187","author":"M Hofmans","year":"2019","unstructured":"Hofmans M, Schroder R, Lammens T et al (2019) Noonan syndrome-associated myeloproliferative disorder with somatically acquired monosomy 7: impact on clinical decision making. Br J Haematol 187(4):E83\u2013E86","journal-title":"Br J Haematol"}],"container-title":["Virchows Archiv"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00428-022-03447-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00428-022-03447-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00428-022-03447-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,12,2]],"date-time":"2023-12-02T04:06:52Z","timestamp":1701490012000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00428-022-03447-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,29]]},"references-count":123,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023,1]]}},"alternative-id":["3447"],"URL":"https:\/\/doi.org\/10.1007\/s00428-022-03447-9","relation":{},"ISSN":["0945-6317","1432-2307"],"issn-type":[{"value":"0945-6317","type":"print"},{"value":"1432-2307","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11,29]]},"assertion":[{"value":"5 September 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 October 2022","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 October 2022","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 November 2022","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Compliance with all ethical standards was undertaken for this work. No research involving human participants and\/or animals was performed for this work. No informed consent was required.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The content of this manuscript is solely the responsibility of the authors and does not necessarily represent the views of the NIH.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Disclaimer"}}]}}