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胆管癌中的“BRCA样”特征:一种新的预后和预测生物标志物?

BRCAness in biliary tract cancer: a new prognostic and predictive biomarker?

作者信息

Hachem Samir, Kassis Yara, Hachem Maria Cr, Zouein Joseph, Gharios Joseph, Kourie Hampig R

机构信息

Department of Hematology-Oncology, Saint Joseph University of Beirut, Riad el Solh Beirut, 11-5076, Lebanon.

Department of General Surgery, Saint Joseph University of Beirut, Riad el Solh Beirut, 11-5076, Lebanon.

出版信息

Biomark Med. 2023 Jan;17(1):51-57. doi: 10.2217/bmm-2022-0664. Epub 2023 Mar 30.

Abstract

Cholangiocarcinoma (CCA) is a rare malignancy with a very poor prognosis. Considering that most cases of CCA are diagnosed at a locally advanced stage and the standard of care for advanced CCA remains suboptimal, new prognostic and predictive biomarkers must be developed to improve the management and survival of patients diagnosed with CCA regardless of disease stage. According to recent studies, 20% of biliary tract cancers exhibit the BRCAness phenotype, meaning that these tumors do not have germline mutations in but share phenotypic traits with tumors that possess hereditary mutations. Therefore, screening for these mutations in CCA patients is beneficial to predict tumor sensitivity and response to DNA-damaging chemotherapy such as platinum agents.

摘要

胆管癌(CCA)是一种预后很差的罕见恶性肿瘤。鉴于大多数CCA病例在局部晚期被诊断出来,且晚期CCA的标准治疗方案仍不尽人意,必须开发新的预后和预测生物标志物,以改善CCA患者的管理和生存状况,无论疾病处于何种阶段。根据最近的研究,20%的胆管癌表现出“BRCA样”表型,这意味着这些肿瘤在 中没有种系突变,但与具有遗传性 突变的肿瘤具有共同的表型特征。因此,对CCA患者进行这些突变的筛查有利于预测肿瘤对铂类药物等DNA损伤化疗的敏感性和反应。

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