1例年轻患者遗传性乳腺癌中PTEN基因突变的报道

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

遗传性乳腺癌是指具有明确遗传易感基因的乳腺癌,其中PTEN胚系突变在乳腺癌中较为少见,但携带PTEN突变的女性乳腺癌发病风险较高。2021年,一位年轻的患者因双乳多发肿块就诊于我院门诊,收治后行双乳肿块旋切术,术后病理证实为右乳导管原位癌,左乳浸润性癌。同时患者双侧腋窝皮肤、颈部及双侧腹股沟区皮肤多发赘生物,外周血的基因二代测序检测结果示PTEN基因突变,结合家族史,患者诊断为Cowden综合征(Cowden syndrome,CS)。此类患者应重视癌症风险全程管理及家系管理,实现疾病的早期发现与及时治疗。

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 VacuumAssisted 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.