Schultze-Florey R E, Graf N, Vorwerk P, Koscielniak E, Schneider D T, Kratz C P
Klinik für Pädiatrische Hämatologie und Onkologie, Medizinische Hochschule, Hannover, Germany.
Klin Padiatr. 2013 May;225(3):177-8. doi: 10.1055/s-0033-1337976. Epub 2013 Apr 26.
Recently, germline mutations of DICER1 have been identified in patients with rare neoplasms suggesting the existence of a newly discovered cancer prone syndrome. Initially, DICER1 mutations were identified in patients with familial pleuropulmonary blastoma. Subsequently, additional manifestations of the syndrome have been identified including cystic nephroma, medulloepithelioma, Sertoli-Leydig cell tumor and others. The DICER1 gene encodes an enzyme that is involved in the biogenesis of microRNAs. The entire tumor spectrum and the respective tumor risks are unknown. We are in the process of launching a natural history study aimed at identifying more information on this new cancer syndrome.
最近，在患有罕见肿瘤的患者中发现了DICER1的种系突变，这表明存在一种新发现的癌症易感综合征。最初，在家族性胸膜肺母细胞瘤患者中发现了DICER1突变。随后，该综合征的其他表现也被发现，包括囊性肾瘤、髓上皮瘤、支持-间质细胞瘤等。DICER1基因编码一种参与微小RNA生物合成的酶。整个肿瘤谱和各自的肿瘤风险尚不清楚。我们正在开展一项自然史研究，旨在获取更多关于这种新癌症综合征的信息。
