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DICER1-Related Embryonal Rhabdomyosarcoma of the Uterine Corpus in a Prepubertal Girl.
青春期前女孩子宫体的 DICER1-Related 胚胎性横纹肌肉瘤。
- 影响因子:1.96
- DOI:10.1016/j.jpag.2019.12.002
- 作者列表:"Dural O","Kebudi R","Yavuz E","Yilmaz I","Buyukkapu Bay S","Schultz KAP","Hill DA
- 发表时间:2020-04-01
Abstract
BACKGROUND:Germline DICER1 mutations increase the risk of developing a wide variety of generally uncommon tumors. We describe a case of DICER1-related embryonal rhabdomyosarcoma (ERMS) of the uterine corpus in a prepubertal girl. CASE:A 10-year-old- girl with a history of cystic nephroma presented with a 3-week history of vaginal bleeding. A 3-cm mass filling the uterine cavity was detected, and histopathologic examination of hysteroscopy-guided biopsy samples revealed ERMS. Molecular genetic sequencing of the tumor sample revealed a DICER1 mutation. SUMMARY AND CONCLUSION:This report highlights the importance of screening for DICER1 mutations in the presence of the early-onset features of this syndrome, and extends the spectrum of DICER1-related tumors by showing the mutation in a case of ERMS of the uterine corpus.
摘要
背景: 生殖系 DICER1 突变增加了发生多种通常不常见肿瘤的风险。我们描述了一例青春期前女孩的子宫体 DICER1-related 胚胎性横纹肌肉瘤 (ERMS)。 病例: 1 例 10 岁女孩,有囊性肾瘤病史,有 3 周阴道出血史。宫腔内见 3 cm 肿块,宫腔镜引导下活检组织病理检查可见 ERMS。肿瘤样本的分子遗传测序发现 DICER1 突变。 总结和结论: 本报告强调了在该综合征早发性特征存在的情况下筛查 DICER1 突变的重要性,并通过显示一例子宫体 ERMS 的突变扩展了 DICER1-related 肿瘤的谱。
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