基因检测时代的中性粒细胞减少症：进展与挑战。
Neutropenia in the age of genetic testing: Advances and challenges.
机构信息
Dana Farber and Boston Children's Cancer and Blood Disorders Center, Boston, Massachusetts.
Department of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts.
出版信息
Am J Hematol. 2019 Mar;94(3):384-393. doi: 10.1002/ajh.25374. Epub 2019 Jan 8.
Abstract
Identification of genetic causes of neutropenia informs precision medicine approaches to medical management and treatment. Accurate diagnosis of genetic neutropenia disorders informs treatment options, enables risk stratification, cancer surveillance, and attention to associated medical complications. The rapidly expanding genetic testing options for the evaluation of neutropenia have led to exciting advances but also new challenges. This review provides a practical guide to germline genetic testing for neutropenia.
摘要
确定中性粒细胞减少症的遗传原因可为精准医疗的医学管理和治疗方法提供信息。对遗传性中性粒细胞减少症的准确诊断可为治疗选择提供信息，能够进行风险分层、癌症监测并关注相关的医疗并发症。用于评估中性粒细胞减少症的基因检测选择的快速扩展带来了令人兴奋的进展，但也带来了新的挑战。本文为中性粒细胞减少症的种系基因检测提供了实用指南。
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