与家族性血小板疾病伴急性髓系白血病倾向相关的RUNX1外显子1和2缺失。
Deletion of RUNX1 exons 1 and 2 associated with familial platelet disorder with propensity to acute myeloid leukemia.
作者信息
Cavalcante de Andrade Silva Marcela, Krepischi Ana Cristina Victorino, Kulikowski Leslie Domenici, Zanardo Evelin Aline, Nardinelli Luciana, Leal Aline Medeiros, Costa Silvia Souza, Muto Nair Hideki, Rocha Vanderson, Velloso Elvira Deolinda Rodrigues Pereira
机构信息
Departamento de Hematologia, Laboratório de Citogenética, Hospital das Clinicas HCFMUSP, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, SP, BR Av. Dr. Eneas de Carvalho 255, Cerqueira César 01246-000, São Paulo, SP, Brazil.
Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, SP, Brazil Rua do Matão, 321, Butantã, 05508-090, São Paulo, SP, Brazil.
出版信息
Cancer Genet. 2018 Apr;222-223:32-37. doi: 10.1016/j.cancergen.2018.01.002. Epub 2018 Feb 5.
Familial platelet disorder with propensity to acute myeloid leukemia (FPD/AML) associated with RUNX1 mutations is an autosomal dominant disorder included in the group of the myeloid neoplasms with germ line predisposition. We describe two brothers who were diagnosed with hematological malignancies (one with AML and the other with T-cell lymphoblastic lymphoma). There was a history of leukemia in the paternal family and two of their siblings presented with low platelet counts and no history of significant bleeding. A microdeletion encompassing exons 1-2 of RUNX1 (outside the cluster region of the Runt Homology domain and the transactivation domain) was detected in six family members using array-CGH and MLPA validation. A low platelet count was not present in all deletion carriers and, therefore, it should not be used as an indication for screening in suspected families and family members.
与RUNX1突变相关的家族性血小板疾病伴急性髓系白血病倾向（FPD/AML）是一种常染色体显性疾病，属于具有种系易感性的髓系肿瘤组。我们描述了两名被诊断患有血液系统恶性肿瘤的兄弟（一人患有急性髓系白血病，另一人患有T细胞淋巴细胞淋巴瘤）。其父亲家族有白血病病史，他们的两个兄弟姐妹血小板计数低且无明显出血史。使用阵列比较基因组杂交（array-CGH）和多重连接探针扩增（MLPA）验证，在六名家族成员中检测到一个包含RUNX1外显子1-2的微缺失（位于Runt同源结构域和反式激活结构域的簇区域之外）。并非所有缺失携带者都有血小板计数低的情况，因此，血小板计数低不应作为疑似家族和家族成员筛查的指标。
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