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

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。

Abstract: 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, diagnosis, treatment and follow-up outcomes to provide reference for management of PTEN gene mutation-related BC among the Cowden syndrome population.