Institute of Human Genetics, University Hospital, University of Munich, Munich, Germany.
Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.
Cancer Lett. 2016 Jan 28;370(2):275-8. doi: 10.1016/j.canlet.2015.11.002. Epub 2015 Nov 11.
DICER1, a RNAse endonuclease involved in the processing of siRNA and microRNA, is known to play a pivotal role in the post-transcriptional regulation of gene expression. Germ line mutations in the DICER1 gene increase the risk for different types of tumors. At present, DICER1 syndrome is an established, though not well defined, member of the group of genetic tumor predisposition syndromes. Here, we report a DICER1 syndrome family with a medical history of different rare tumors mostly occurring at a young age. The tumor spectrum in this family included both DICER1 syndrome-typical forms, such as pleuropulmonary blastoma, multinodular goiter, and cystic nephroma, and not previously reported manifestations, such as pilomatrixoma, and juvenile basal cell carcinoma. The latter tumor types are usually considered to be indicators of familial adenomatous polyposis and basal cell nevus syndrome.
DICER1 是一种 RNA 内切酶，参与 siRNA 和 microRNA 的加工，已知在基因表达的转录后调控中发挥关键作用。DICER1 基因的种系突变会增加不同类型肿瘤的风险。目前，DICER1 综合征是遗传肿瘤易感性综合征这一组中已确立但尚未明确界定的成员之一。在这里，我们报告了一个具有不同罕见肿瘤病史的 DICER1 综合征家族，这些肿瘤主要发生在年轻时。该家族的肿瘤谱包括 DICER1 综合征典型形式，如肺胸膜胚细胞瘤、多结节性甲状腺肿和囊性肾瘤，以及以前未报道的表现，如毛发基质瘤和幼年基底细胞癌。后两种肿瘤类型通常被认为是家族性腺瘤性息肉病和基底细胞痣综合征的指标。
