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淋巴瘤的易患因素:遗传咨询师实用综述

Predispositions to Lymphoma: A Practical Review for Genetic Counselors.

作者信息

Similuk Morgan, Rao V Koneti, Churpek Jane, Lenardo Michael

机构信息

National Institute of Allergy and Infectious Diseases, NIH, 10 Center Drive, Building 10, Room 12C103, Bethesda, MD, USA.

University of Chicago Medical Center, Chicago, IL, USA.

出版信息

J Genet Couns. 2016 Dec;25(6):1157-1170. doi: 10.1007/s10897-016-9979-0. Epub 2016 Jun 6.

DOI:10.1007/s10897-016-9979-0
PMID:27265405
Abstract

This review provides a synopsis for genetic counselors of the major concepts of lymphoma predisposition: genomic instability, immune deficiency, inappropriate lymphoproliferation, and chronic antigen stimulation. We discuss syndromes typifying each of these mechanisms. Importantly, our review of the genetic counseling literature reveals sparse discussion of genetically-based immune-mediated lymphoma predisposition, which we address in depth here. We aim to increase awareness among genetic counselors and colleagues in oncology about familial susceptibility and facilitate critical thinking about lymphoma risk assessment. Clinical application of this knowledge is aided by recommendations for collection of personal and family history to guide risk assessment and testing. Lastly, we include a special discussion of genetic counseling issues including perceptions of the context, nature, and magnitude of lymphoma risk, as well as coping with awareness of susceptibility to lymphoma.

摘要

本综述为遗传咨询师提供了淋巴瘤易感性主要概念的概述

基因组不稳定、免疫缺陷、不适当的淋巴细胞增殖和慢性抗原刺激。我们讨论了代表每种机制的综合征。重要的是,我们对遗传咨询文献的综述显示,关于基于遗传的免疫介导的淋巴瘤易感性的讨论很少,我们在此进行了深入探讨。我们旨在提高遗传咨询师和肿瘤学同事对家族易感性的认识,并促进对淋巴瘤风险评估的批判性思考。通过收集个人和家族史的建议来指导风险评估和检测,有助于这一知识的临床应用。最后,我们特别讨论了遗传咨询问题,包括对淋巴瘤风险的背景、性质和程度的认知,以及应对淋巴瘤易感性的认知。

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