{"title":"骨髓恶性肿瘤的生殖系易感性：贯穿整个生命周期。","authors":"Himachandana Atluri, Alok Swaroop, Lucy A Godley","doi":"10.1053/j.seminhematol.2025.08.002","DOIUrl":null,"url":null,"abstract":"<p><p>Germline predisposition syndromes to myeloid malignancies have been recognized increasingly over the last decade. Although many of these genetic syndromes present early in life, the age at which a hematopoietic malignancy develops can vary widely depending on the specific gene involved and its role in hematopoiesis. Herein, we aim to review age-related penetrance and phenotype of key germline predisposition syndromes including: SAMD9/9L, GATA2, inherited bone marrow failure syndromes, RUNX1, CEBPA, TP53, and DDX41. We describe optimal diagnostic strategies for these patients, and explain how recognition of germline predisposition allows for the development of optimal treatment plan for the affected individual and counseling of at-risk family members.</p>","PeriodicalId":21684,"journal":{"name":"Seminars in hematology","volume":" ","pages":""},"PeriodicalIF":4.1000,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Germline predispositions to myeloid malignancies: Across the lifespan.\",\"authors\":\"Himachandana Atluri, Alok Swaroop, Lucy A Godley\",\"doi\":\"10.1053/j.seminhematol.2025.08.002\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Germline predisposition syndromes to myeloid malignancies have been recognized increasingly over the last decade. Although many of these genetic syndromes present early in life, the age at which a hematopoietic malignancy develops can vary widely depending on the specific gene involved and its role in hematopoiesis. Herein, we aim to review age-related penetrance and phenotype of key germline predisposition syndromes including: SAMD9/9L, GATA2, inherited bone marrow failure syndromes, RUNX1, CEBPA, TP53, and DDX41. We describe optimal diagnostic strategies for these patients, and explain how recognition of germline predisposition allows for the development of optimal treatment plan for the affected individual and counseling of at-risk family members.</p>\",\"PeriodicalId\":21684,\"journal\":{\"name\":\"Seminars in hematology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":4.1000,\"publicationDate\":\"2025-08-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Seminars in hematology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1053/j.seminhematol.2025.08.002\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Seminars in hematology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1053/j.seminhematol.2025.08.002","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"HEMATOLOGY","Score":null,"Total":0}
Germline predispositions to myeloid malignancies: Across the lifespan.
Germline predisposition syndromes to myeloid malignancies have been recognized increasingly over the last decade. Although many of these genetic syndromes present early in life, the age at which a hematopoietic malignancy develops can vary widely depending on the specific gene involved and its role in hematopoiesis. Herein, we aim to review age-related penetrance and phenotype of key germline predisposition syndromes including: SAMD9/9L, GATA2, inherited bone marrow failure syndromes, RUNX1, CEBPA, TP53, and DDX41. We describe optimal diagnostic strategies for these patients, and explain how recognition of germline predisposition allows for the development of optimal treatment plan for the affected individual and counseling of at-risk family members.
期刊介绍：
Seminars in Hematology aims to present subjects of current importance in clinical hematology, including related areas of oncology, hematopathology, and blood banking. The journal''s unique issue structure allows for a multi-faceted overview of a single topic via a curated selection of review articles, while also offering a variety of articles that present dynamic and front-line material immediately influencing the field. Seminars in Hematology is devoted to making the important and current work accessible, comprehensible, and valuable to the practicing physician, young investigator, clinical practitioners, and internists/paediatricians with strong interests in blood diseases. Seminars in Hematology publishes original research, reviews, short communications and mini- reviews.
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