三阴性乳腺癌
乳腺癌
错义突变
癌症研究
依西美坦
转移
PI3K/AKT/mTOR通路
医学
依维莫司
基因
生物
突变
肿瘤科
癌症
内科学
芳香化酶
遗传学
细胞凋亡
作者
Saïd El Shamieh,Fatima Saleh,Salim Moussa,Joseph Kattan,Fadi Farhat
出处
期刊:Pharmacogenomics
[Future Medicine]
日期:2018-05-23
卷期号:19 (9): 757-760
被引量:26
标识
DOI:10.2217/pgs-2018-0019
摘要
Triple-negative breast cancer (TNBC) is characterized by its aggressive behavior, metastasis and lack of targeted therapies. Herein, we discuss the clinical, histopathological and genetic profile of a woman diagnosed with TNBC. Since the patient had no durable response to chemotherapy, a genetic profiling was carried out. Next-generation sequencing analysis of 592 genes showed a missense mutation, p.E545A in PIK3CA, thus the patient was started on the mTOR inhibitor everolimus, in combination with exemestane, which controlled her pain; however, the disease progressed aggressively. More importantly, next-generation sequencing analysis showed a RICTOR gene amplification (eight copies) suggesting that RICTOR promotes the genesis of TNBC. We conclude that determining regulators of RICTOR and furthermore, their inhibitors might decrease cancer cells proliferation rate in patients with TNBC.
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