PTEN gene mutation in young patient with hereditary breast cancer:a case report

VernacularTitle:1例年轻患者遗传性乳腺癌中PTEN基因突变的报道
Author: Ming-Di ZHANG ¹ ; Ya-Xuan LIU ; Yin-Ping XIAO ; Jun-Ren MA ; Hong-Liang CHEN ; Ke-Jin WU
Author Information

1. 复旦大学附属妇产科医院乳腺外科上海 200011
Keywords: hereditary breast cancer; Cowden syndrome(CS); whole-process management; family management
From: Fudan University Journal of Medical Sciences 2024;51(5):857-863
CountryChina
Language:Chinese
Abstract: Hereditary breast cancer refers to breast cancer with a genetic susceptibility gene.PTEN germline mutations are rare in breast cancer,but patients with PTEN mutations have a high risk of breast cancer.In 2021,A young patient with bilateral breast cancer was admitted to the Obstetrics and Gynecology Hospital,Fudan University.Due to bilateral multiple breast lumps,she underwent Vacuum-Assisted Breast Biopsy,which was pathologically confirmed as right ductal carcinoma in situ,left breast invasive carcinoma.The patient had multiple neoplasms in bilateral axillary region skin,neck skin and bilateral inguinal regiona skin,and the second-generation sequencing results of peripheral blood genes showed PTEN gene mutation.Combined with family history,the patient was diagnosed with Cowden syndrome(CS).Such patients should be paid attention to cancer risk management and family management,so as to attain early diagnosis and treatment.