PTEN基因突变Cowden综合征相关单侧多中心乳腺癌及同时性、异时性双侧乳腺癌3例  

PTEN Mutation Related Unilateral Multicentric,Synchronous and Metachronous Bilateral Breast Cancer:Three Case Reports

作　　者：姚儒[1] 杨旭 屈洋[1] 连杰 张家慧 黄欣[1] 陈畅[1] 任新瑜[2] 潘博[1] 周易冬[1] 孙强[1] YAO Ru;YANG Xu;QU Yang;LIAN Jie;ZHANG Jiahui;HUANG Xin;CHEN Chang;REN Xinyu;PAN Bo;ZHOU Yidong;SUN Qiang(Department of Breast Surgery,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Pathology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医院乳腺外科,北京100730 [2]中国医学科学院北京协和医院病理科,北京100730

出　　处：《协和医学杂志》2024年第4期916-920,共5页Medical Journal of Peking Union Medical College Hospital

基　　金：中央高水平医院临床科研专项(2022-PUMCH-B-039,2022-PUMCH-A-165);中国医学科学院医学与健康科技创新工程重大协同创新项目(2021-I2M-1-014)。

摘　　要：10号染色体上磷酸酶和张力蛋白同源物(phosphatase and tensin-homolog deleted on chromosome 10,PTEN)是重要的抑癌基因,其突变可引发PTEN错构瘤肿瘤综合征(PTEN hamartoma tumor syndrome,PHTS),常被称为Cowden综合征,是较为罕见的遗传性肿瘤综合征,其与早发性、多发性乳腺癌高度相关。本文报道3例PTEN基因突变相关单侧多中心乳腺癌及同时性、异时性双侧乳腺癌患者,并总结其临床表现、病理特征、诊治经验及随访情况,旨在为临床医生更好地诊治PTEN基因突变相关乳腺癌及Cowden综合征人群提供借鉴。Phosphatase and tensin-homolog deleted on chromosome 10(PTEN)is an important cancer suppressor gene.Its pathogenic mutation leads to PTEN hamartoma tumor syndrome(PHTS),a rare syndrome also known as Cowden syndrome,which is relevant to early-onset hereditary breast cancer(BC).In this paper,we report three patients with unilateral multicentric BC and synchronous and metachronous bilateral BC who harbored PTEN gene mutations,and summarize the clinical manifestations,pathological characteristics,diag-nosis,treatment and follow-up outcomes to provide reference for management of PTEN gene mutation-related BC among the Cowden syndrome population.

关 键 词：PTEN基因突变 乳腺癌 双侧乳腺癌 Cowden综合征 

分 类 号：R655.8[医药卫生—外科学] R737.9[医药卫生—临床医学]