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伴有体细胞BRCA1突变的卵巢纯大细胞神经内分泌癌:首例报告及文献综述

Pure large-cell neuroendocrine carcinoma of the ovary with a somatic BRCA1 mutation: The first reported case and the review of the literature.

作者信息

Wang Musen, Gao Fei, Wang Xiao, Guo Yebing, Zhang Hongkai

机构信息

Department of Pathology, Dong E County People's Hospital of Shangdong Province, Liao Cheng, China.

Department of Gynecology, Dong E County People's Hospital of Shangdong Province, Liao Cheng, China.

出版信息

SAGE Open Med Case Rep. 2024 Jul 31;12:2050313X241266415. doi: 10.1177/2050313X241266415. eCollection 2024.

Abstract

Pure large-cell neuroendocrine carcinomas of the ovary are extremely rare, so there is a lack of molecular information on this type of cancer. Herein, we presented a pure primary large-cell neuroendocrine carcinomas of the ovary in a 72-year-old female with a pathogenic somatic mutation at the c.5332+1g>a splice site of the BRCA1 gene and with no TP53 mutation. She was uneventful 32 months after the operation and chemotherapies. To the best of our knowledge, this is the first report of a BRCA1 somatic mutation in the ovary large-cell neuroendocrine carcinomas. Testing BRCA1/2 mutations in patients with large ovarian cell neuroendocrine carcinomas might provide an opportunity for their future target treatments. It would expand our understanding.

摘要

卵巢纯大细胞神经内分泌癌极为罕见,因此缺乏关于这类癌症的分子信息。在此,我们报告了一名72岁女性的原发性卵巢纯大细胞神经内分泌癌,其BRCA1基因c.5332+1g>a剪接位点存在致病性体细胞突变,且无TP53突变。术后及化疗32个月后她情况良好。据我们所知,这是卵巢大细胞神经内分泌癌中BRCA1体细胞突变的首例报告。检测卵巢大细胞神经内分泌癌患者的BRCA1/2突变可能为其未来的靶向治疗提供机会。这将拓宽我们的认识。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ade/11292710/dee7c9cd27a8/10.1177_2050313X241266415-fig1.jpg

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