CHEK2 Germline Variants in Early-Onset and Familial Myeloproliferative Neoplasms.

IF 9.9 1区医学 Q1 HEMATOLOGY

American Journal of Hematology Pub Date : 2025-09-09 DOI:10.1002/ajh.70072

Oscar Borsani,Elisabetta Molteni,Daniela Pietra,Anna Gallì,Virginia Valeria Ferretti,Silvia Catricalà,Ettore Rizzo,Luca Malcovati,Elisa Rumi

引用次数: 0

Abstract

Of 313 patients with early-onset or familial MPN, 7 (2.2%) patients had pathogenic/likely pathogenic (P/LP) germline heterozygous loss of function mutations in CHEK2. The presence of CHEK2 variants was associated with a familial history of malignancies and a higher risk of leukemic evolution, reinforcing the hypothesis of CHEK2 variants as tumor predisposing risk allele.

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早发性和家族性骨髓增殖性肿瘤中的CHEK2种系变异

在313例早发性或家族性MPN患者中，7例（2.2%）患者CHEK2存在致病性/可能致病性（P/LP）种系杂合功能缺失突变。CHEK2变异的存在与恶性肿瘤的家族史和更高的白血病进化风险相关，强化了CHEK2变异是肿瘤易感风险等位基因的假设。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

American Journal of Hematology 医学-血液学

CiteScore

15.70

自引率

3.90%

发文量

363

审稿时长

3-6 weeks

期刊介绍： The American Journal of Hematology offers extensive coverage of experimental and clinical aspects of blood diseases in humans and animal models. The journal publishes original contributions in both non-malignant and malignant hematological diseases, encompassing clinical and basic studies in areas such as hemostasis, thrombosis, immunology, blood banking, and stem cell biology. Clinical translational reports highlighting innovative therapeutic approaches for the diagnosis and treatment of hematological diseases are actively encouraged.The American Journal of Hematology features regular original laboratory and clinical research articles, brief research reports, critical reviews, images in hematology, as well as letters and correspondence.