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携带与不携带BRCA基因突变的年轻乳腺癌女性的长期肿瘤学结果比较:肿瘤和遗传风险因素如何影响临床预后。

Comparison of Long-Term Oncological Results in Young Women with Breast Cancer between BRCA-Mutation Carriers Versus Non-Carriers: How Tumor and Genetic Risk Factors Influence the Clinical Prognosis.

作者信息

Tinterri Corrado, Di Maria Grimaldi Simone, Sagona Andrea, Barbieri Erika, Darwish Shadya, Bottini Alberto, Canavese Giuseppe, Gentile Damiano

机构信息

Breast Unit, IRCCS Humanitas Research Hospital, Via Manzoni 56, 20089 Rozzano, Milan, Italy.

Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, 20090 Pieve Emanuele, Milan, Italy.

出版信息

Cancers (Basel). 2023 Aug 19;15(16):4177. doi: 10.3390/cancers15164177.

Abstract

BACKGROUND

Breast cancer (BC) is very uncommon in young women (YW) and it is unclear whether a BRCA mutation has prognostic implications. Our aim was to evaluate the characteristics of YW with BC by comparing the long-term oncological results between BRCA-mutation carriers and non-carriers.

METHODS

We retrospectively reviewed all the consecutive YW (aged 18-40 years) diagnosed with BC. Endpoints were disease-free survival (DFS), distant disease-free survival (DDFS), and overall survival (OS).

RESULTS

63 YW with a BRCA mutation were compared with 339 YW without BRCA mutation. BRCA-mutation carriers were younger (60.3% versus 34.8% if age ≤ 35 years, = 0.001) and presented with more aggressive tumors (66.7% versus 40.7% if G3, = 0.001; 57.2% versus 12.4% if biological subtype triple-negative, = 0.001; 73.0% versus 39.2% if Ki67 ≥ 25%, = 0.001). Non-carriers presented significantly better DFS, DDFS, and OS compared with BRCA-mutation carriers. Neoadjuvant chemotherapy was found to be an independent protective factor for OS in BRCA-mutation carriers.

CONCLUSIONS

BC is more likely to present at a younger age (≤ 35 years) and with more aggressive characteristics (G3, triple-negative, Ki67 ≥ 25%) in YW with BRCA mutation compared with their non-mutated counterparts. Young BRCA-mutation carriers showed a poorer prognosis in terms of recurrence and survival compared with non-carriers. The implementation of neoadjuvant chemotherapy may improve survival in YW with BC and BRCA mutation.

摘要

背景

乳腺癌(BC)在年轻女性(YW)中非常罕见,目前尚不清楚BRCA突变是否具有预后意义。我们的目的是通过比较BRCA突变携带者和非携带者的长期肿瘤学结果,评估YW患BC的特征。

方法

我们回顾性分析了所有连续诊断为BC的YW(年龄18 - 40岁)。观察终点为无病生存期(DFS)、远处无病生存期(DDFS)和总生存期(OS)。

结果

将63例携带BRCA突变的YW与339例未携带BRCA突变的YW进行比较。BRCA突变携带者更年轻(年龄≤35岁者,60.3%对34.8%,P = 0.001),且肿瘤侵袭性更强(G3者,66.7%对40.7%,P = 0.001;三阴生物学亚型者,57.2%对12.4%,P = 0.001;Ki67≥25%者,73.0%对39.2%,P = 0.001)。与BRCA突变携带者相比,非携带者的DFS、DDFS和OS明显更好。新辅助化疗被发现是BRCA突变携带者OS的独立保护因素。

结论

与未发生突变的YW相比,携带BRCA突变的YW患BC时更可能在年轻时(≤35岁)发病,且具有更具侵袭性的特征(G3、三阴、Ki67≥25%)。年轻的BRCA突变携带者在复发和生存方面的预后比非携带者更差。新辅助化疗的实施可能改善携带BRCA突变的YW患BC时的生存情况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f72a/10452863/cfd761ffb058/cancers-15-04177-g001.jpg

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