DICER1突变与伴有家族性肿瘤易感性综合征的肿瘤：实际考量
DICER1 mutation and tumors associated with a familial tumor predisposition syndrome: practical considerations.
作者信息
Bardón-Cancho Eduardo J, Haro-Díaz Ana, Alonso-García-de la Rosa Francisco J, Huerta-Aragonés Jorge, García-Morín Marina, González-Martínez Felipe, Garrido-Colino Carmen
机构信息
Section of Pediatric Hematology and Oncology, Department of Pediatrics, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
Chief of Human Genetic Area, Instituto de Investigación de Enfermedades Raras (IIER), Instituto de Salud Carlos III, Majadahonda, Madrid, Spain.
出版信息
Fam Cancer. 2017 Apr;16(2):291-294. doi: 10.1007/s10689-016-9949-6.
The familial tumor predisposition syndrome known as DICER1-pleuropulmonary blastoma (PPB) or DICER1 tumor predisposition syndrome was first described in 2009, and it involves an increased risk in the occurrence of various tumors, like cystic nephroma and PPB. Here is presented a girl with a cystic nephroma and two cystic lung lesions who was diagnosed years later with the DICER1 gene mutation. This mutation was also found in one of her parents. Thus, the screening for the DICER1 gene mutation may be important in children with certain/multiple tumors and their families.
家族性肿瘤易感性综合征，即DICER1 - 胸膜肺母细胞瘤（PPB）或DICER1肿瘤易感性综合征，于2009年首次被描述，它涉及多种肿瘤发生风险的增加，如囊性肾瘤和PPB。本文介绍了一名患有囊性肾瘤和两处肺部囊性病变的女孩，数年后被诊断出患有DICER1基因突变。该突变也在她的一位父母身上被发现。因此，对患有特定/多种肿瘤的儿童及其家族进行DICER1基因突变筛查可能很重要。
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