Synchronous Ovarian and Breast Cancers with a Novel Variant in BRCA2 Gene: A Case Report

Néstor Llinás-Quintero,Gustavo Matute-Turizo,Luis J Gallón-Villegas,Elsa M Vasquez-Trespalacios,Eduardo Cabrera-Florez,Gustavo Mendoza-Fandiño

doi:10.1155/2019/6958952

Néstor Llinás-Quintero, Gustavo Matute-Turizo + Show 4 more

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https://doi.org/10.1155/2019/6958952

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Abstract

We report a case of a 52-year-old female with a family history of pancreatic and colon cancers who presented with a right breast mass positive for high-grade medullar carcinoma with triple-negative biomolecular profile. Further workup was performed finding a left ovarian mass. The patient underwent laparotomy performing optimal cytoreduction on bilateral ovarian tumors; the pathology and immunohistochemistry confirmed bilateral ovary adenocarcinoma with positive peritoneal malignancy. Due to her synchronic breast and ovarian cancers, a genetic profile was performed detecting a new pathogenic variant in the BRCA2 gene: c.3606_3607del (p.Ser1203Cysfs). She was given chemotherapy with carboplatin and paclitaxel obtaining complete clinical response. Regarding her breast cancer, she had a right modified radical mastectomy and prophylactic left mastectomy obtaining complete clinical response. This case presents with an unusual subtype and difficult histologic diagnosis of a synchronic medullar breast cancer and ovary carcinoma associated with a new mutation of the BRCA2 gene.

Highlights

We report a case of a 52-year-old female with a family history of pancreatic and colon cancers who presented with a right breast mass positive for high-grade medullar carcinoma with triple-negative biomolecular profile
Pathology and immunohistochemistry of the lesion (60 × 40 mm) revealed an estrogen receptor negative (ER-), progesterone receptor negative (PR-), HER2 negative (HER2-), and Ki67 index of 20% mass (Figure 1), which led to the diagnosis of adenocarcinoma stage IIB of the right breast
BRCA1/2 mutation carriers are at high risk of breast cancer (RR > 10), similar to that observed in patients with a history of chest radiotherapy [2, 3], breast surgery, systemic therapy, and other prophylactic interventions [4]

Summary

Introduction

We report a case of a 52-year-old female with a family history of pancreatic and colon cancers who presented with a right breast mass positive for high-grade medullar carcinoma with triple-negative biomolecular profile. This case presents with an unusual subtype and difficult histologic diagnosis of a synchronic medullar breast cancer and ovary carcinoma associated with a new mutation of the BRCA2 gene.

Results

Conclusion