From the Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Arch Pathol Lab Med. 2019 Jan;143(1):13-22. doi: 10.5858/arpa.2017-0194-RA. Epub 2018 Jan 26.
CONTEXT.—: Myeloid neoplasms with familial occurrence have been rarely reported in the past. With the advance of molecular technology and better understanding of the molecular pathogenesis of myeloid neoplasms, investigating the genetic causes of familial acute myeloid leukemia or myelodysplastic syndrome has become feasible in the clinical setting. Recent studies have identified a rapidly expanding list of germline mutations associated with increased risks of developing myeloid neoplasm in the affected families. It is important to recognize these entities, as such a diagnosis may dictate a unique approach in clinical management and surveillance for the patients and carriers.
OBJECTIVE.—: To raise the awareness of myeloid neoplasms arising in the setting of familial inheritance among practicing pathologists.
DATA SOURCES.—: Based on recent literature and the 2016 revision of the World Health Organization classification of hematopoietic neoplasms, we provide an up-to-date review of myeloid neoplasm with germline predisposition.
CONCLUSIONS.—: This short review focuses on the clinical, pathologic, and molecular characterization of myeloid neoplasm with germline predisposition. We emphasize the important features that will help practicing pathologists to recognize these newly described entities.
过去曾很少有家族性髓系肿瘤的报道。随着分子技术的进步和对髓系肿瘤分子发病机制的更好理解，在临床环境中调查家族性急性髓系白血病或骨髓增生异常综合征的遗传原因已成为可能。最近的研究确定了与受影响家族中髓系肿瘤风险增加相关的不断扩大的种系突变列表。认识到这些实体很重要，因为这样的诊断可能决定了患者和携带者的临床管理和监测的独特方法。
提高临床病理学家对家族遗传背景下发生的髓系肿瘤的认识。
基于最近的文献和 2016 年世界卫生组织造血肿瘤分类的修订版，我们提供了对具有种系易感性的髓系肿瘤的最新综述。
这篇简短的综述重点介绍了具有种系易感性的髓系肿瘤的临床、病理和分子特征。我们强调了有助于临床病理学家识别这些新描述实体的重要特征。
