Abstract

Background: DICER1 tumor predisposition syndrome is characterized by an increased risk for development of pleuropulmonary blastoma, pituitary blastoma, multinodular thyroid goiter, thyroid carcinoma, sex cord stromal tumor, cystic nephroma, embryonal rhabdomyosarcoma, and tumors of the CNS, amongst others. Of this list, only pituitary blastoma is recognized as pathognomonic for the syndrome. Case report: We describe a 15-year-old female with bilateral, asynchronous Sertoli-Leydig cell tumors (SLCT). Both tumors harbored an identical germline frameshift mutation as well as unique somatic DICER1 hot-spot point mutations. Discussion: A review of bilateral SLCTs demonstrates that all patients with available DICER1 mutation status carried a germline DICER1 mutation (100%, 9 of 9). In cases with known somatic DICER1 status on bilateral tumors, all harbored distinct somatic mutations (100%, 5 of 5). Our findings support the notion that bilateral ovarian SLCTs are indeed separate events and do not represent recurrent or metastatic disease.

摘要

背景： DICER1肿瘤易感综合征的特点是发生胸膜肺母细胞瘤、垂体母细胞瘤、多结节性甲状腺肿、甲状腺癌、性索间质瘤、囊性肾瘤、胚胎性横纹肌肉瘤和中枢神经系统肿瘤等的风险增加。在这个列表中，只有垂体母细胞瘤被认为是该综合征的特征。病例报告：我们描述了一名 15 岁女性，患有双侧异步支持间质细胞瘤 (SLCT)。两种肿瘤都具有相同的种系移码突变以及独特的体细胞DICER1热点点突变。讨论：对双侧 SLCT 的回顾表明，所有具有可用DICER1的患者突变状态携带种系DICER1突变（100%，9 中的 9）。在双侧肿瘤上已知体细胞DICER1状态的病例中，所有病例都具有不同的体细胞突变（100%，5 中的 5）。我们的研究结果支持这样的观点，即双侧卵巢 SLCT 确实是单独的事件，并不代表复发或转移性疾病。