林奇综合征相关前列腺小细胞神经内分泌癌临床案例分析  

Diagnosis of Lynch Syndrome-associated Prostatic Small Cell Neuroendocrine Carcinoma:A Clinical Case Analysis

作　　者：刘隺是[1] 陈勇 王欣冉 齐晓凤[1] LIU Heshi;CHEN Yong;WANG Xinran;QI Xiaofeng(Department of Radiology,Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine,Shanghai 200025,China)

机构地区：[1]上海交通大学医学院附属瑞金医院放射科,上海200025

出　　处：《CT理论与应用研究(中英文)》2025年第2期319-326,共8页Computerized Tomography Theory and Applications

摘　　要：林奇综合征是一种常染色体显性遗传的癌症综合征,发病机制为DNA错配修复基因中的生殖系突变。林奇综合征相关前列腺小细胞神经内分泌癌是一种非常罕见的林奇综合征肠外癌症,本文报告1例54岁的男性林奇综合征患者并发前列腺肿瘤,病理证实为前列腺小细胞神经内分泌癌,伴有MSH2和PMS2蛋白表达缺失。本文结合临床特征和影像对该病进行综述,以提高对该病的临床认识,为该病的早期诊断提供思路。Lynch syndrome is an autosomal dominant hereditary cancer syndrome characterized by germline mutations in DNA mismatch repair genes.Lynch syndrome-associated small cell neuroendocrine carcinoma of the prostate is an extremely rare extracolonic tumor associated with Lynch syndrome.This article reports the case of a 54-year-old male with Lynch syndrome who developed a prostate tumor pathologically confirmed as small cell neuroendocrine carcinoma of the prostate,accompanied by a loss of MSH2 and PMS2 protein expression.This article reviews the clinical features and imaging findings of this disease to enhance clinical awareness and provide insights for early diagnosis of this condition.

关 键 词：林奇综合征相关前列腺小细胞神经内分泌癌 诊断 临床特征 影像学表现 

分 类 号：R737.25[医药卫生—肿瘤] R814[医药卫生—临床医学]