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血液系统恶性肿瘤的风险评估与遗传咨询——美国国家遗传咨询师协会实践资源

Risk assessment and genetic counseling for hematologic malignancies-Practice resource of the National Society of Genetic Counselors.

作者信息

Stewart Brittany L, Helber Hannah, Bannon Sarah A, Deuitch Natalie T, Ferguson Meghan, Fiala Elise, Hamilton Kayla V, Malcolmson Janet, Pencheva Bojana, Smith-Simmer Kelcy

机构信息

Cleveland Clinic, Cleveland, Ohio, USA.

Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

出版信息

J Genet Couns. 2025 Apr;34(2):e1959. doi: 10.1002/jgc4.1959. Epub 2024 Aug 27.

Abstract

Hematologic malignancies (HMs) are a heterogeneous group of cancers impacting individuals of all ages that have been increasingly recognized in association with various germline predisposition syndromes. Given the myriad of malignancy subtypes, expanding differential diagnoses, and unique sample selection requirements, evaluation for hereditary predisposition to HM presents both challenges as well as exciting opportunities in the ever-evolving field of genetic counseling. This practice resource has been developed as a foundational resource for genetic counseling approaches to hereditary HMs and aims to empower genetic counselors who encounter individuals and families with HMs in their practice.

摘要

血液系统恶性肿瘤(HMs)是一组异质性癌症,影响着各个年龄段的人群,并且越来越多地被认为与各种种系易感性综合征有关。鉴于恶性肿瘤亚型众多、鉴别诊断不断扩大以及独特的样本选择要求,对血液系统恶性肿瘤遗传易感性的评估在不断发展的遗传咨询领域既带来了挑战,也带来了令人兴奋的机遇。本实践资源已被开发为遗传咨询遗传性血液系统恶性肿瘤方法的基础资源,旨在增强在实践中遇到患有血液系统恶性肿瘤的个人和家庭的遗传咨询师的能力。

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