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.

中文翻译：

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一例青少年患者躯体BRAF突变驱动的管旁浆液性交界性肿瘤一例

背景

我们描述了一种青少年时期罕见的肾小管旁浆液性交界性肿瘤，并为其分子基础提供了见识。

案件

一名14岁女孩的月经周期不规则，右盆腔肿块较大。计算机体层摄影成像显示右卵巢上出现囊性肿瘤，周围钙化。在剖腹手术中，发现了位于独立于输卵管的右子宫旁侧的囊性肿瘤。卵巢完好无损，肿瘤已成功切除。术中使用冰冻切片技术和随后的病理学诊断发现了一个管旁浆液性交界性肿瘤。分子分析显示，B-Raf原癌基因丝氨酸/苏氨酸激酶（BRAF）基因具有染色体稳定的肿瘤基因组和致病性体细胞突变（c.1799 T> A，p.Val600Glu）。

总结与结论

这种情况表明，BRAF p.Val600Glu突变可能是这种罕见肿瘤中的致癌驱动因子。