{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T06:58:02Z","timestamp":1790578682673,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T00:00:00Z","timestamp":1790467200000},"content-version":"vor","delay-in-days":269,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Hematology"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>Acute myeloid leukemia (AML) is a heterogeneous hematologic malignancy driven by the accumulation of genetic alterations in hematopoietic progenitor cells. CEBPA variants have been linked to familial AML, although multigenerational cases have been infrequently reported. We describe the case of a 6\u2010year\u2010old boy referred for hematologic abnormalities, with a history of idiopathic thrombocytopenic purpura at age 3. His family history revealed 11 cases of AML in four maternal generations, suggesting autosomal dominant inheritance. Diagnostic evaluation revealed AML with 40% bone marrow blasts, a normal karyotype, and a negative multiplex RT\u2010PCR panel for 28 common chromosomal translocations. Next\u2010generation sequencing (NGS) identified a novel heterozygous pathogenic variant in the CEBPA gene (c.273_309delinsGGCCAGGGTCT; p.Lys92Alafs\u22177), which was predicted to generate a truncated protein. Given the patient\u2019s medical history, genetic screening was performed on the patient\u2019s first\u2010degree relatives. Genetic testing subsequently identified the same variant in the patient\u2019s mother, supporting its germline origin, while his sister showed no alterations in the CEBPA gene sequence. The presence of the variant in the patient\u00b4s mother, who is asymptomatic, is consistent with autosomal dominant transmission and age\u2010dependent or incomplete penetrance. In this case, the patient carried a heterozygous variant, achieved complete remission after chemotherapy, and remains under surveillance. We present a pathogenic germline deletion\u2010insertion variant in the CEBPA gene, not previously described in the literature, associated with hereditary predisposition to AML in a four\u2010generation family, highlighting the variable expressivity characteristic of this syndrome and the relevance of considering a hereditary predisposition disorder in pediatric patients with AML.<\/jats:p>","DOI":"10.1155\/crh\/8189036","type":"journal-article","created":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T06:48:48Z","timestamp":1790578128000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Hereditary Predisposition to Acute Myeloid Leukemia: A Novel Germline CEBPA Mutation in a Multigenerational Family"],"prefix":"10.1155","volume":"2026","author":[{"given":"Nancy Aislinn","family":"T\u00f3nix-Ram\u00edrez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-4919-1150","authenticated-orcid":false,"given":"Eneida","family":"S\u00e1nchez-Medina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis Enrique","family":"Mu\u00f1\u00f3z-P\u00e9rez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel","family":"Hern\u00e1ndez-Ramos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Guevara-Espejel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Bautista-Rodr\u00edguez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3841-2663","authenticated-orcid":false,"given":"Federico","family":"Osorio-Antonio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,27]]},"reference":[{"key":"e_1_2_11_1_2","volume-title":"Epidemiology of Acute Myeloid Leukemia: Recent Progress and Enduring Challenges","author":"Shallis R. M.","year":"2019"},{"key":"e_1_2_11_2_2","doi-asserted-by":"publisher","DOI":"10.3389\/fpubh.2023.1056489"},{"key":"e_1_2_11_3_2","volume-title":"Early Life Nutrition Factors and Risk of Acute Leukemia in Children: Systematic Review and Meta-Analysis","author":"Kintossou A. K.","year":"2023"},{"key":"e_1_2_11_4_2","volume-title":"Acute Myeloid Leukemia: A Comprehensive Review and 2016 Update","author":"De Kouchkovsky I.","year":"2016"},{"key":"e_1_2_11_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.27625"},{"key":"e_1_2_11_6_2","volume-title":"Pediatric Acute Myeloid Leukemia: Updates on Biology, Risk Stratification, and Therapy","author":"Elgarten C. W.","year":"2020"},{"key":"e_1_2_11_7_2","doi-asserted-by":"crossref","DOI":"10.1159\/000536152","volume-title":"Pathophysiology of Acute Myeloid Leukemia","author":"Wachter F.","year":"2024"},{"key":"e_1_2_11_8_2","doi-asserted-by":"crossref","DOI":"10.1097\/MOH.0000000000000567","volume-title":"Driver Mutations in Acute Myeloid Leukemia","author":"Kishtagari A.","year":"2020"},{"key":"e_1_2_11_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41568-020-00315-z"},{"key":"e_1_2_11_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/86515"},{"key":"e_1_2_11_11_2","doi-asserted-by":"publisher","DOI":"10.4081\/HR.2021.9114"},{"key":"e_1_2_11_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1854"},{"key":"e_1_2_11_13_2","doi-asserted-by":"publisher","DOI":"10.1515\/bchm.1997.378.5.373"},{"key":"e_1_2_11_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/s1097-2765(01)00366-5"},{"key":"e_1_2_11_15_2","doi-asserted-by":"crossref","unstructured":"YuanJ. HeR. andAlkhateebH. B. Sporadic and Familial Acute Myeloid Leukemia With CEBPA Mutations 2023 Springer https:\/\/doi.org\/10.1007\/s11899-023-00699-3.","DOI":"10.1007\/s11899-023-00699-3"},{"key":"e_1_2_11_16_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2015-05-647172"},{"key":"e_1_2_11_17_2","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2008.16.5563"},{"key":"e_1_2_11_18_2","unstructured":"Aislinn T\u00f3nix-Ram\u00edrezN.et al. Hereditary Predisposition to Acute Myeloid Leukemia: A Novel Germline CEBPA Mutation in a Multigenerational Family https:\/\/ssrn.com\/abstract=5494716."}],"container-title":["Case Reports in Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crh\/8189036","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crh\/8189036","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crh\/8189036","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T06:48:52Z","timestamp":1790578132000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crh\/8189036"}},"subtitle":[],"editor":[{"given":"Kalyani","family":"Sen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/crh\/8189036"],"URL":"https:\/\/doi.org\/10.1155\/crh\/8189036","archive":["Portico"],"relation":{},"ISSN":["2090-6560","2090-6579"],"issn-type":[{"value":"2090-6560","type":"print"},{"value":"2090-6579","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2025-11-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-10","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-27","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"8189036"}}