A Case of Paratubal Serous Borderline Tumor Driven by a Somatic BRAF Mutation in an Adolescent Patient |
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| Authors: | Angel Chao Yen-Ling Huang Chiao-Yun Lin An-Shine Chao Yun-Shien Lee Ren-Chin Wu Chyong-Huey Lai |
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| Institution: | 1. Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital and Chang Gung University, Linkou Medical Center, Taoyuan, Taiwan;2. Gynecologic Cancer Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan;3. Department of Medical Imaging and Intervention, Chang Gung Memorial Hospital Linkou Medical Center, Taoyuan, Taiwan;4. Department of Obstetrics and Gynecology, New Taipei City Municipal Tu Cheng Hospital, New Taipei City, Taiwan;5. Department of Biotechnology, Ming-Chuan University, Taoyuan, Taiwan;6. Genomic Medicine Core Laboratory, Chang Gung Memorial Hospital Linkou Medical Center, Taoyuan, Taiwan;7. Department of Pathology, Chang Gung Memorial Hospital and Chang Gung University, Linkou Medical Center, Taoyuan, Taiwan |
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| Abstract: | BackgroundWe describe a rare paratubal serous borderline tumor occurring in an adolescent and provide insight into its molecular underpinnings.CaseA 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 ConclusionThis case shows that the BRAF p.Val600Glu mutation likely acts as an oncogenic driver in this rare neoplasm. |
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| Keywords: | Paratubal serous borderline tumor Borderline ovarian tumor Mutation analysis |
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