Division of Gynecologic Oncology, Department of Obstetrics and Gynaecology, Faculty of Medicine, Ramathibody Hospital, Mahidol University Bangkok, Thailand.
Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
Asian Pac J Cancer Prev. 2020 Aug 1;21(8):2381-2388. doi: 10.31557/APJCP.2020.21.8.2381.
Ovarian, fallopian tube, or primary peritoneal cancer patients with BRCA gene mutation have enhanced sensitivity to platinum-based regimens and PARP inhibitors. However, the knowledge regarding BRCA mutation in Thai patients is limited. This study aimed at identifying the prevalence and characteristics of somatic and germline BRCA 1 and 2 mutations in Thai patients with these cancers.
The paraffin blocks of tumors with histology of high grade serous, high grade endometrioid, or clear cell carcinoma obtained between June 2016 and December 2017 were analyzedto evaluate BRCA mutation using next-generation sequencing system. Blood or normal tissue paraffin blocks of positive patients were further tested for germline BRCA mutation.
Tissue paraffin blocks of 178 patients were collected but only 139 were analyzed. Positive BRCA mutation was identified in 24 patients (17.3%): BRCA1 in 13 cases, BRCA2 in 10 cases, and BRCA1 and 2 in the rest one. Germline mutation study in blood or normal tissue in 23 positive patients revealed BRCA mutation in 14 cases, BRCA1 in 8 cases and BRCA 2 in 6 cases. Overall, the prevalence of somatic and germline mutation was 6.5% (9 out of 138 patients) and 8.7% (14 out of 138 patients), respectively. The most common histology associated with BRCA mutation was high grade serous cancer (27.3%). No significant difference was found between patients with or without BRCA mutation in terms of stage, outcome, platinum status, and survival outcome.
BRCA mutation was demonstrated in less than 10% of Thai ovarian cancer patients. Higher rate of mutation was found in high grade serous cancer.
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携带 BRCA 基因突变的卵巢、输卵管或原发性腹膜癌患者对铂类药物方案和 PARP 抑制剂更为敏感。然而，泰国患者 BRCA 突变的相关知识有限。本研究旨在确定这些癌症的泰国患者中体细胞和种系 BRCA1 和 2 突变的流行率和特征。
材料与方法：分析 2016 年 6 月至 2017 年 12 月获得的高级别浆液性、高级别子宫内膜样或透明细胞癌组织学的肿瘤石蜡块，使用下一代测序系统评估 BRCA 突变。阳性患者的血液或正常组织石蜡块进一步进行种系 BRCA 突变检测。
结果：收集了 178 例患者的组织石蜡块，但仅分析了 139 例。在 24 例患者中（17.3%）发现了阳性 BRCA 突变：BRCA1 突变 13 例，BRCA2 突变 10 例，其余 1 例同时存在 BRCA1 和 2 突变。对 23 例阳性患者的血液或正常组织进行种系突变研究，发现 14 例存在 BRCA 突变，8 例为 BRCA1 突变，6 例为 BRCA2 突变。总的来说，体细胞和种系突变的发生率分别为 6.5%（138 例患者中的 9 例）和 8.7%（138 例患者中的 14 例）。与 BRCA 突变相关的最常见组织学类型是高级别浆液性癌（27.3%）。在 BRCA 突变患者和无 BRCA 突变患者之间，在分期、结局、铂类状态和生存结局方面均未发现显著差异。
结论：在不到 10%的泰国卵巢癌患者中发现了 BRCA 突变。高级别浆液性癌中的突变率更高。
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