国际肿瘤学杂志 ›› 2019, Vol. 46 ›› Issue (6): 354-357.doi: 10.3760/cma.j.issn.1673-422X.2019.06.008

• 综述 • 上一篇    下一篇

乳腺癌脑转移的基因突变特征及靶向治疗

易宗毕, 马飞, 徐兵河   

  1. 国家癌症中心 国家肿瘤临床医学研究中心 中国医学科学院北京协和医学院肿瘤医院肿瘤内科,北京100021
  • 出版日期:2019-06-08 发布日期:2019-07-11
  • 通讯作者: 马飞,Email: drmafei@126.com E-mail:drmafei@126.com
  • 基金资助:

    国家自然科学基金(81874122)

Profile of gene mutations and targeted treatment of brain metastases in breast cancer

Yi Zongbi, Ma Fei, Xu Binghe   

  1. National Cancer Center, National Clinical Research Center for Cancer; Department of Medical Oncology, Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China
  • Online:2019-06-08 Published:2019-07-11
  • Contact: Ma Fei, Email: drmafei@126.com E-mail:drmafei@126.com
  • Supported by:

    National Natural Science Foundation of China (81874122)

摘要: 脑转移是乳腺癌患者死亡的主要原因之一,脑转移在三阴性和人表皮生长因子受体2阳性乳腺癌患者中更常见,而在激素受体阳性乳腺癌中发生率相对较低。乳腺癌脑转移与原发肿瘤的基因突变和表达不同,一些具有治疗靶点的突变位于脑转移瘤中,而不是在原发肿瘤中。乳腺癌脑转移的靶向治疗药物有限,大部分是从对原发肿瘤有效的药物中选择,缺乏针对脑转移的特异性靶向治疗药物。脑转移特异性的基因突变和表达改变的鉴定对于今后脑转移的靶向治疗至关重要。

关键词: 乳腺肿瘤, 脑转移, 基因突变, 靶向治疗

Abstract: Brain metastasis (BM) is considered one of the major causes of mortality in breast cancer patients. BM develops more frequently in triplenegative breast cancer and human epidermal growth factor receptor 2 (HER2)positive breast cancers, while the incidence of BM in hormone receptor positive is much lower. Mutations and expression of BM of breast cancer are differ from their primary tumors. Importantly, some therapeutic actionable mutations can be present in the BM while not in the primary tumors. Current targeted therapeutics in BM of breast cancers are limited, and drugs used have proven effects on the primary tumors but lack specificity for the BM. The identification of genomic and expressional alterations specific to BM are crucial to the development of BM specific targeted therapies.

Key words: Breast neoplasms, Brain metastasis, Mutation, Targeted therapy