[BRCA2致病基因突变的前列腺癌:临床病理分析]。

Q3 Medicine
D H Wang, W L Yin, X Y Pan, M N Zhang, L Nie, X Q Chen, H Zeng, Q Zhou, N Chen
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引用次数: 0

摘要

目的分析BRCA2致病基因突变的前列腺癌的临床病理特征,以及BRCA2致病基因突变与临床病理特征之间的关联。同时研究患者的存活率。研究方法收集2014年6月至2021年8月在中国成都四川大学华西医院接受基因检测的249名前列腺癌患者的临床病理资料。对组织病理学形态、临床病理学特征和患者生存率进行回顾性分析。结果249例前列腺癌患者的基因检测结果显示,73例(73/249,29.3%)患者存在DNA损伤修复基因(DRG)致病突变,其中22例(8.8%)患者存在BRCA2致病突变,51例患者存在其他DRG致病突变。在 22 例 BRCA2 致病基因突变患者中,14 例(5.6%)携带种系突变,8 例(3.2%)携带体细胞突变。他们的年龄从 48 岁到 91 岁不等,中位数为 67 岁。17名患者(77.3%)有远处转移,包括16例骨转移和1例多处转移。13例患者(59.1%)为阉割抵抗性前列腺癌。组织学类型以典型前列腺尖腺癌为主,其中 16 例(72.7%)为前列腺导管内癌(IDC-P)。6例(27.3%)出现局灶性神经内分泌分化。11例(50.0%)和8例(36.4%)分别出现了神经/血管周围侵犯和前列腺外扩展。19例患者(86.4%)的格里森评分≥8分。与BRCA2体细胞致病基因突变、其他DRG致病基因突变或无DRG致病基因突变的患者相比,IDC-P更常见于BRCA2种系致病基因突变的患者(P=0.002)。总随访时间为189个月,中位总生存期(OS)为132.3个月。与无DRG致病基因突变的患者相比,有DRG致病基因突变的患者的OS更短(P=0.040)。BRCA2种系致病基因突变患者的OS与BRCA2体细胞致病基因突变、其他DRG致病基因突变或无DRG致病基因突变患者的OS无显著差异(P=0.216)。结论BRCA2基因致病突变常见于Gleason分级高、临床分期晚和阉割抵抗的前列腺癌。与无 BRCA2 基因致病突变的病例相比,有 BRCA2 基因致病突变的病例更常出现 IDC-P。与无DRG基因致病突变的患者相比,有DRG基因致病突变的患者OS较短,但BRCA2基因致病突变与OS之间没有明显的关联。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Prostate cancer with BRCA2 pathogenic mutation: a clinicopathological analysis].

Objective: To analyze the clinicopathological features of prostate cancers with BRCA2 pathogenic mutations, and the association between BRCA2 pathogenic mutation and clinicopathological characteristics. Patient survivals were also examined. Methods: Clinicopathological data of 249 prostate cancer patients who underwent genetic testing in West China Hospital of Sichuan University, Chengdu, China from June 2014 to August 2021 were collected. A retrospective analysis of histopathological morphology, clinicopathological characteristics, and patient survivals was conducted. Results: The genetic testing in the 249 prostate cancer patients showed a pathogenic mutation of DNA damage repair gene (DRG) in 73 cases (73/249, 29.3%), including 22 cases (8.8%) with BRCA2 pathogenic mutation and 51 cases with pathogenic mutations of other DRG. Among the 22 patients with BRCA2 pathogenic mutation, 14 patients (5.6%) harbored germline mutations and 8 patients (3.2%) somatic mutations. Their ages ranged from 48 to 91 years, with a median of 67 years. Seventeen patients (77.3%) had distant metastasis, including 16 cases with bone metastasis and 1 case with multiple metastases. Thirteen patients (59.1%) were castration-resistant prostate cancer. The histological type was mainly classical prostatic acinar adenocarcinoma, including 16 cases (72.7%) with intraductal carcinoma of the prostate (IDC-P). Six cases (27.3%) showed focal neuroendocrine differentiation. Perineural/vascular invasion and extraprostatic extension were seen in 11 cases (50.0%) and 8 cases (36.4%), respectively. The Gleason scores of 19 patients (86.4%) were≥8. IDC-P was more commonly found in patients with BRCA2 germline pathogenic mutation than those with BRCA2 somatic pathogenic mutation, other DRG pathogenic mutation or no-DRG pathogenic mutation (P=0.002). With a total follow-up time of 189 months, the median overall survival (OS) was 132.3 months. Patients with DRG pathogenic mutation had shorter OS than those with no-DRG pathogenic mutation (P=0.040). The OS of patients with BRCA2 germline pathogenic mutation did not significantly differ from that of patients with BRCA2 somatic pathogenic mutation, other DRG pathogenic mutation or no-DRG pathogenic mutation (P=0.216). Conclusions: The presence of BRCA2 gene pathogenic mutation is common in the prostate cancers with high Gleason grade, advanced clinical stage, and castration resistance. IDC-P is more commonly noted in cases with BRCA2 germline pathogenic mutation than those without. Patients with DRG pathogenic mutation have shorter OS than those with no-DRG pathogenic mutation, but there is no significant association between BRCA2 pathogenic mutations and OS.

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中华病理学杂志
中华病理学杂志 Medicine-Medicine (all)
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