Akpan Imo J, Osman Afaf E G, Drazer Michael W, Godley Lucy A
Section of Hematology/Oncology, Department of Medicine, The University of Chicago Comprehensive Cancer Center, The University of Chicago, 5841 S. Maryland Avenue, MC 2115, Chicago, IL, 60637, USA.
Department of Human Genetics, The University of Chicago, Chicago, IL, USA.
Curr Hematol Malig Rep. 2018 Dec;13(6):426-434. doi: 10.1007/s11899-018-0473-7.
To review the diagnosis of individuals with hereditary hematopoietic malignancies (HHMs) that predispose to myelodysplastic syndrome and acute myeloid leukemia, barriers to HHM diagnosis, and unaddressed questions and controversies within the HHM field.
Pathogenic germline mutations in approximately a dozen genes predispose to HHMs, and many more genes are likely to be involved. Many of these HHM genes have only been identified recently. HHM phenotypes are diverse, but may be categorized as "purely" myeloid syndromes, syndromes with abnormal platelet number/function, and HHMs with additional organ system involvement. A number of questions remain unanswered in this emerging field, including the ideal diagnostic approach for patients at risk for HHMs, the optimal surveillance of unaffected carriers, and how to personalize care for individuals with HHMs. The field of HHMs is evolving rapidly. Ongoing research in this area will eventually inform the care of patients with both somatic and hereditary cancer syndromes, but much work remains to be done.
回顾易患骨髓增生异常综合征和急性髓系白血病的遗传性造血系统恶性肿瘤（HHMs）患者的诊断、HHMs诊断的障碍以及HHMs领域尚未解决的问题和争议。
大约十几个基因中的致病种系突变易导致HHMs，可能还有更多基因参与其中。许多这些HHM基因直到最近才被发现。HHM的表型多种多样，但可分为“单纯”髓系综合征、血小板数量/功能异常综合征以及伴有其他器官系统受累的HHMs。在这个新兴领域仍有许多问题未得到解答，包括HHMs高危患者的理想诊断方法、未受影响携带者的最佳监测以及如何为HHMs患者提供个性化护理。HHMs领域正在迅速发展。该领域正在进行的研究最终将为体细胞和遗传性癌症综合征患者的护理提供依据，但仍有许多工作要做。
