Nguyen Thuy Thi, Hamdan Diaddin, Angeli Eurydice, Feugeas Jean-Paul, Le Quang Van, Pamoukdjian Frédéric, Bousquet Guilhem
National Cancer Hospital, Ha Noi 100000, Vietnam.
Institut National de la Santé Et de la Recherche Médicale (INSERM), Université Paris Cité, UMR_S942 MASCOT, 75006 Paris, France.
Cancers (Basel). 2023 Mar 12;15(6):1728. doi: 10.3390/cancers15061728.
Breast cancer brain metastases are a challenging daily practice, and the biological link between gene mutations and metastatic spread to the brain remains to be determined. Here, we performed a meta-analysis on genomic data obtained from primary tumors, extracerebral metastases and brain metastases, to identify gene alterations associated with metastatic processes in the brain. Articles with relevant findings were selected using Medline via PubMed, from January 1999 up to February 2022. A critical review was conducted according to the Preferred Reporting Items for Systematic Review and Meta-analysis statement (PRISMA). Fifty-seven publications were selected for this meta-analysis, including 37,218 patients in all, 11,906 primary tumor samples, 5541 extracerebral metastasis samples, and 1485 brain metastasis samples. We report the overall and sub-group prevalence of gene mutations, including comparisons between primary tumors, extracerebral metastases and brain metastases. In particular, we identified six genes with a higher mutation prevalence in brain metastases than in extracerebral metastases, with a potential role in metastatic processes in the brain: and . We discuss here the therapeutic implications. Our results underline the added value of obtaining biopsies from brain metastases to fully explore their biology, in order to develop personalized treatments.
乳腺癌脑转移是日常临床中一项具有挑战性的工作，基因突变与脑转移扩散之间的生物学联系仍有待确定。在此，我们对从原发性肿瘤、脑外转移灶和脑转移灶获取的基因组数据进行了荟萃分析，以确定与脑转移过程相关的基因改变。通过PubMed检索Medline，选取了1999年1月至2022年2月发表的有相关研究结果的文章。根据系统评价和荟萃分析报告规范（PRISMA）进行严格评审。本荟萃分析共纳入57篇出版物，共计37218例患者，包括11906份原发性肿瘤样本、5541份脑外转移灶样本和1485份脑转移灶样本。我们报告了基因突变的总体及亚组患病率，包括原发性肿瘤、脑外转移灶和脑转移灶之间的比较。特别是，我们鉴定出六个在脑转移灶中突变患病率高于脑外转移灶的基因，它们在脑转移过程中可能发挥作用： 和 。我们在此讨论其治疗意义。我们的结果强调了获取脑转移灶活检以充分探索其生物学特性从而制定个性化治疗方案的附加价值。
