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伴有甲胎蛋白升高及相关突变的卵巢两性母细胞瘤病例

Case of Gynandroblastoma of the Ovary with Raised AFP and Associated Mutation.

作者信息

Limbachiya Dipak, Tiwari Rajnish, Kumari Rashmi, Trivedi Priti

机构信息

Department of Gynaecological Endoscopy, Eva Women's Hospital, Neelkanth Park 2, Ghoda Camp Road, Shahibaug, Ahmedabad, 380004 India.

出版信息

J Obstet Gynaecol India. 2025 Apr;75(Suppl 1):549-551. doi: 10.1007/s13224-024-02005-4. Epub 2024 Jul 11.

Abstract

The case report depicts a 16-year-old female, who presented with complaints of an abdominal mass extending up to the xiphisternum. A CECT of the abdomen and pelvis showed a large right ovarian mass, solid cystic in consistency with raised . The patient underwent a right salpingo-oophorectomy. The frozen section histopathology showed a Sex cord-stromal tumor. The fertility-sparing staging surgery was performed, considering the young age of the patient. The final histopathology with immunohistochemistry revealed it to be a case of Gynandroblastoma [Sertoli Leydig cell component is intermediate to poorly differentiated (80%) + Juvenile Granulosa Cell Tumour (20%)]. The final FIGO stage was stage IA, grade 3. The patient was given adjuvant chemotherapy (4 cycles of BEP). NGS analysis showed a mutation in gene. The follow-up at 12 months post-treatment of the patient is recurrence-free with serum tumor marker AFP within the normal range.

摘要

该病例报告描述了一名16岁女性,她因主诉腹部肿块延伸至剑突下而就诊。腹部和盆腔的增强CT显示右侧卵巢有一个大肿块,质地为实性囊性,且有升高表现。患者接受了右侧输卵管卵巢切除术。冰冻切片组织病理学显示为性索间质肿瘤。考虑到患者年龄较小,进行了保留生育功能的分期手术。最终的组织病理学及免疫组化结果显示为两性母细胞瘤[支持-间质细胞成分介于中度分化至低分化之间(80%)+幼年型颗粒细胞瘤(20%)]。最终国际妇产科联盟(FIGO)分期为IA期,3级。患者接受了辅助化疗(4个周期的BEP方案)。二代测序(NGS)分析显示某基因存在突变。患者治疗后12个月的随访结果显示无复发,血清肿瘤标志物甲胎蛋白(AFP)在正常范围内。

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