食管鳞状细胞癌中的种系 BRCA1 基因突变:驱动基因突变与从属基因突变

Kaler Amrit Kaur, Upadhyay Shraddha Manoj, Bora Nandini Shyamali, Nikam Ankita, P. Kavya, Athikeri Nivetha, Solanki Dattatray B, Shaikh Imran, Mistry Rajesh
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引用次数: 0

摘要

我们报告了一例罕见的病例:62 岁的南亚妇女被诊断出患有食道癌(报告为转移至淋巴结的浸润性角化鳞状细胞癌)后,前往分子病理学和基因组学部进行遗传性种系癌症基因检测。她的个人病史显示,她在食道癌五年前被诊断出患有三阴性乳腺癌。种系癌症检测显示,BRCA1基因c.68_69delAG存在致病变异,证明这是一种遗传性乳腺癌和卵巢癌综合征。她开始服用 PARP 抑制剂,但出现了一些继发性呼吸衰竭,最终不治身亡。关于生殖系 BRCA1 与食道鳞状细胞癌的关联,文献中的报道不足 10 例。本文重点探讨了 BRCA1 基因突变与非经典恶性肿瘤的可能发病机制,以及聚腺苷二磷酸核糖聚合酶抑制剂(PARP)抑制剂在这种情况下的反应。我们报告了一起不寻常的 BRCA1 基因突变病例,患者在五年后患第二原发性食道鳞状细胞癌,之后又发展为三阴性乳腺癌。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Germline BRCA1 Mutation inSquamous Cell Carcinoma of Oesophagus: Driver versus Passenger Mutation
We report a rare case of 62-year-old South Asian women who visited the Molecular Pathology and Genomics Department for hereditary germline cancer genetic testing after being diagnosed with oesophageal cancer, reported as invasive keratinizing squamous cell carcinoma metastasized to the lymph nodes. Her personal history revealed that she was diagnosed with triple-negative breast cancer five years before oesophageal cancer. Germline cancer testing showed pathogenic variants in BRCA1 gene c.68_69delAG, which proved it a hereditary breast and ovarian cancer syndrome. She was started on PARP inhibitors but developed some secondary respiratory failure and succumbed to death. Less than 10 cases have been reported in the literature of the association of germline BRCA1 and Squamous cell Carcinoma – the esophagus. The article focuses on the probable pathogenesis of BRCA1 mutation with non-classic malignancies and the response of Poly adenosine diphosphate ribose polymerase inhibitors (PARP) inhibitors in such a scenario. We report an unusual manifestation of the BRCA1 gene with second primary oesophageal squamous cell cancer occurring five years later to triple-negative breast cancer.
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