Furutani Elissa, Shimamura Akiko
All authors: Dana-Farber Cancer Center and Boston Children's Cancer and Blood Disorders Center, Boston, MA.
J Clin Oncol. 2017 Mar 20;35(9):1018-1028. doi: 10.1200/JCO.2016.70.8644. Epub 2017 Feb 13.
Development of hematologic malignancies is driven by mutations that may be somatic or germline. Availability of next-generation DNA sequencing technologies has facilitated the development of individualized diagnostic evaluations and tailored treatment strategies. Until now, such personalized medical approaches have largely centered on prognostic stratification and treatment strategies informed by acquired somatic mutations. The role of germline mutations in children and adults with hematologic malignancies was previously underappreciated. Diagnosis of an inherited predisposition to hematologic malignancy informs choice of therapy, risk of treatment-related complications, donor selection for hematopoietic stem cell transplantation, evaluation of comorbidities, and surveillance strategies to improve clinical outcomes. The recognition that patients with inherited hematologic malignancy syndromes may present without classic clinical stigmata or suspicious family history has led to increased reliance on genetic testing, which, in turn, has raised new diagnostic challenges. Genomic testing is a rapidly evolving field with an increasing number of choices for testing for the practicing clinician to navigate. This review will discuss general approaches to diagnosis and management of patients with germline predisposition to hematology malignancies and will consider applications and limitations of genomic testing in clinical practice.
血液系统恶性肿瘤的发生是由体细胞或种系突变驱动的。新一代DNA测序技术的出现促进了个体化诊断评估和定制化治疗策略的发展。到目前为止,这种个性化医疗方法主要集中在由获得性体细胞突变所指导的预后分层和治疗策略上。种系突变在患有血液系统恶性肿瘤的儿童和成人中的作用此前未得到充分认识。诊断血液系统恶性肿瘤的遗传易感性有助于指导治疗选择、治疗相关并发症的风险、造血干细胞移植的供体选择、合并症评估以及改善临床结局的监测策略。认识到遗传性血液系统恶性肿瘤综合征患者可能没有典型的临床特征或可疑的家族病史,这导致对基因检测的依赖增加,而这反过来又带来了新的诊断挑战。基因组检测是一个快速发展的领域,可供执业临床医生选择的检测方法越来越多。本综述将讨论对有血液系统恶性肿瘤种系易感性患者的诊断和管理的一般方法,并将考虑基因组检测在临床实践中的应用和局限性。