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.
作者
姚儒
杨旭
屈洋
连杰
张家慧
黄欣
陈畅
任新瑜
潘博
周易冬
孙强
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)
出处
《协和医学杂志》
CSCD
北大核心
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)。
