一例由青少年患者体细胞 BRAF 突变驱动的副输卵管浆液性交界性肿瘤。
A Case of Paratubal Serous Borderline Tumor Driven by a Somatic BRAF Mutation in an Adolescent Patient.
机构信息
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital and Chang Gung University, Linkou Medical Center, Taoyuan, Taiwan; Gynecologic Cancer Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
Department of Medical Imaging and Intervention, Chang Gung Memorial Hospital Linkou Medical Center, Taoyuan, Taiwan.
出版信息
J Pediatr Adolesc Gynecol. 2021 Apr;34(2):228-230. doi: 10.1016/j.jpag.2020.11.008. Epub 2020 Nov 12.
BACKGROUND
We describe a rare paratubal serous borderline tumor occurring in an adolescent and provide insight into its molecular underpinnings.
CASE
A 14-year-old girl presented with irregular menstrual cycles and a large right pelvic mass. Computed tomography imaging revealed a cystic neoplasm arising from the right ovary with peripheral calcification. During laparotomy, a cystic tumor located at the right parametrium independent of the fallopian tube was identified. The ovary was intact and the tumor was successfully removed. Intraoperative diagnosis using the frozen section technique and subsequent pathology revealed a paratubal serous borderline tumor. Molecular analyses revealed a chromosomally stable tumor genome and a pathogenic somatic mutation (c.1799 T > A, p.Val600Glu) in the B-Raf proto-oncogene, serine/threonine kinase (BRAF) gene.
SUMMARY AND CONCLUSION
This case shows that the BRAF p.Val600Glu mutation likely acts as an oncogenic driver in this rare neoplasm.
背景
我们描述了一例发生于青少年的罕见副输卵管浆液性交界性肿瘤，并探讨其分子基础。
病例报告
一名 14 岁女孩因月经周期不规律和右侧盆腔肿块就诊。计算机断层扫描成像显示右侧卵巢起源的囊性肿瘤，周围有钙化。剖腹术中，发现位于右侧附件、与输卵管无关的囊性肿瘤。卵巢完整，肿瘤被成功切除。术中采用冷冻切片技术进行诊断，随后的病理检查提示为副输卵管浆液性交界性肿瘤。分子分析显示肿瘤基因组染色体稳定，存在 BRAF 原癌基因丝氨酸/苏氨酸激酶（BRAF）基因的致病性体细胞突变（c.1799T > A，p.Val600Glu）。
总结和结论
本病例表明，BRAF p.Val600Glu 突变可能是这种罕见肿瘤的致癌驱动因素。
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