卵巢支持-间质细胞瘤临床病理学及分子遗传学特征分析  

Clinical Pathology and Molecular Genetic Characteristics of Ovarian Sertoli-Leydig Cell Tumors

作　　者：李振乾[1] 李盼 李道明[1] 陈奎生[1] LI Zhenqian;LI Pan;LI Daoming;CHEN Kuisheng(Department of Pathology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450000,China)

机构地区：[1]郑州大学第一附属医院病理科,河南郑州450000

出　　处：《河南医学研究》2024年第11期1931-1935,共5页Henan Medical Research

摘　　要：目的 探讨卵巢支持-间质细胞瘤(SLCT)的临床病理学特征及分子遗传学特征。方法 回顾郑州大学第一附属医院收治的13例SLCT患者的临床病理资料,Sanger测序检测DICER1热点区域体细胞突变(第24、25外显子相关位点),完善随访资料,分析DICER1突变与SLCT临床病理特征的相关性,并检索相关文献。结果 SLCT中位数年龄24岁,首发临床症状为月经失调、盆腔包块或下腹胀痛;镜下见管状、条索状及肉瘤样等区域,免疫组化表达CR、WT-1、Inhibin-α、SF-1等。预后随访中30.8%(4/13)患者复发,76.9%(10/13)检测到DICER1基因突变,且DICER1基因突变在年龄上差异有统计学意义(P<0.05),在组织学分化程度、肿瘤是否复发上差异无统计学意义(P>0.05),有异源性分化者DICER1突变率可能高。结论 SLCT形态多样,诊断需要结合临床特点、免疫组化及DICER1基因检测。DICER1突变多发生于年轻患者,与组织学分化、肿瘤是否复发的关系需进一步研究。Objective To explore the clinicopathological and molecular genetic characteristics of ovarian Sertoli-Leydig cell tumors(SLCT).Methods The clinical and pathological data of 13 cases of SLCT in the First Affiliated Hospital of Zhengzhou University were retrospectively reviewed.Sanger sequencing was used to detect somatic mutations in the hotspots of DICER1 gene(exon 24 and 25).Follow-up data was perfected to investigate the correlation between DICER1 mutations and clinical pathological features of SLCT.Relevant literature was also searched.Results SLCT patients had a median age of 24 years old and were hospitalized after presenting symptoms of menstrual irregularities,pelvic masses,and lower abdominal distension.Microscopically,the tumor could exhibit various patterns,such as tubular,cord-like,and sarcomatoid areas.Immunohistochemistry staining showed positive expression for CR,WT-1,Inhibin-α,SF-1,etc.The follow-up showed a recurrence rate of 30.8%(4/13)in patients.DICER1 gene mutations were detected in 76.9%(10/13)of cases.The DICER1 gene mutations were found to be statistically significant in relation to age differences,while no statistical significance was observed in terms of histological differentiation or tumor recurrence.Cases with heterologous differentiation may have a higher rate of DICER1 mutations.Conclusion SLCT exhibits morphological diversity.A combination of clinical features,immunohistochemistry and DICER1 gene testing is recommended.DICER1 mutation is more common in young patients.However,the further study may be needed to evaluate the relation between DICER1 mutation and histological differentiation,as well as tumor recurrence.

关 键 词：卵巢支持-间质细胞肿瘤 病理特征 DICER1基因 

分 类 号：R737.3[医药卫生—肿瘤]