家族性骨髓增生异常/急性白血病综合征——具有种系易感性的髓系肿瘤
Familial Myelodysplastic/Acute Leukemia Syndromes-Myeloid Neoplasms with Germline Predisposition.
作者信息
Baptista Renata Lyrio Rafael, Dos Santos Anna Cláudia Evangelista, Gutiyama Luciana Mayumi, Solza Cristiana, Zalcberg Ilana Renault
机构信息
Departamento de Medicina Interna/Hematologia, Hospital Universitário Pedro Ernesto, Rio de Janeiro, Brazil.
Programa de Genética, Instituto Nacional do Câncer, Rio de Janeiro, Brazil.
出版信息
Front Oncol. 2017 Sep 12;7:206. doi: 10.3389/fonc.2017.00206. eCollection 2017.
Although most cases of myeloid neoplasms are sporadic, a small subset has been associated with germline mutations. The 2016 revision of the World Health Organization classification included these cases in a myeloid neoplasm group with a predisposing germline mutational background. These patients must have a different management and their families should get genetic counseling. Cases identification and outline of the major known syndromes characteristics will be discussed in this text.
虽然大多数髓系肿瘤病例是散发性的，但一小部分与种系突变有关。世界卫生组织2016年修订版将这些病例纳入具有种系突变易感背景的髓系肿瘤组。这些患者必须接受不同的管理，其家人应接受遗传咨询。本文将讨论病例识别以及主要已知综合征的特征概述。
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