A Case of BRAF V600E Mutation and Targeted Therapy in Borderline Ovarian Serous Cystadenoma

Case Report

Austin Gynecol Case Rep. 2023; 8(1): 1038.

A Case of BRAF V600E Mutation and Targeted Therapy in Borderline Ovarian Serous Cystadenoma

Min JX and Yuan HY*

Department of Obstetrics and Gynecology, National Clinical Research Center for Obstetric and Gynecologic Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, China

*Corresponding author: Yuan HYDepartment of Obstetrics and Gynecology, National Clinical Research Center for Obstetric and Gynecologic Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China Tel: 138-1158-0852, E-mail: Liuhaiyuan_pumc@126.com

Received: February 15, 2023; Accepted: March 22, 2023; Published: March 29, 2023

Abstract

Background: Borderline ovarian serous cystadenoma with 30% BRAF mutation is common in young women. Although surgery is generally the treatment of choice, surgery or repeated surgery can reduce a woman’s fertility and ovarian reserve. Therefore, it is critical to explore other treatment measures besides surgery.

Case Presentation: We herein describe the clinical outcome and significance of a 41-year-old patient with a BRAF V600E mutation in borderline ovarian serous cystadenoma after treatment with a BRAF inhibitor.

Conclusion: A BRAF inhibitor may be effective in patients with borderline ovarian serous cystadenoma with BRAF V600E mutation.

Keywords: BRAF V600E; Targeted therapy; Borderline ovarian cystadenoma; Mutation; Dabrafenib

Introduction

Borderline epithelial ovarian tumor is also known as low-grade malignant potential tumor or atypical proliferation tumor without obvious infiltration [1], and the primary pathological types are serous and mucinous [2]. Although investigators have in recent years detected the expression of an increasing number of abnormal genes in borderline ovarian serous tumors, there are no reports of targeted therapy for the disease. This report outlines a case of borderline ovarian serous cystadenoma with a BRAF V600E mutation, and the subsequent successfully targeted treatment using a BRAF inhibitor.

Case Presentation

We herein describe a 41-year-old woman who underwent right adnexectomy for “right ovarian mass” under laparoscopy in 2013. The postoperative pathology was borderline serous tumor of the right adnexa, with no specific abnormality of the fallopian tube. In 2016, an abnormal ultrasonogram revealed a left cystic solid ovarian mass 3 cm in diameter; and on 11 January 2018, gynecological ultrasonography showed left adnexal mass, which was the same as the imaging result before primary surgery. This suggested the possibility of borderline ovarian tumor recurrence (Figure 1). We detected the somatic mutation c.1799T>A (p. V600E) in the BRAF gene (NM_004333.6) of the patient using Whole-Exome Sequencing (WES) [3]. Peripheral blood samples were used as germline controls, and the sequencing depth at this locus was 64X, with a mutation frequency of 9.38%. We also noted wild-type KRAS, which was consistent with the conclusion that the two oncogenes were mutually exclusive.

Citation: Min JX, Yuan HY. A Case of BRAF V600E Mutation and Targeted Therapy in Borderline Ovarian Serous Cystadenoma. Austin Gynecol Case Rep. 2023; 8(1): 1038.