Reporte de caso: carcinoma metaplásico de mama con componente epitelial escamoso puro y mutación de PIK3CA

Abstract

Introduction. Metaplastic breast carcinoma with a pure squamous epithelial component is a rare breast tumour with a prevalence between 0.06% and 0.2%. There are a limited number of case reports on this disease, its molecular features are poorly defined and the underlying basis for the histologic heterogeneity remains unclear. Objective. Describe the case of a 67-year-old female patient diagnosed with metaplastic breast carcinoma with pure squamous epithelial component and mutation of the PIK3CA gene, to analyze the clinical characteristics, histological patterns and to explore the treatment in this neoplasm. Methodology. The methodology used was a case report; the information collected was through the analysis of the patient's clinical history with prior authorization by means of informed consent. Results. A 67-year-old female patient detects a palpable mass in the right breast during self-exploration. She underwent complementary examinations for evaluation, and it was determined that she had metaplastic breast carcinoma with a pure squamous epithelial component with alteration of the PIK3CA gene. Currently, the patient has concluded her adjuvant therapy and is under follow-up imaging studies. Conclusion. Metaplastic breast carcinoma with pure squamous epithelial component represents a rare and aggressive entity that requires an accurate diagnosis and appropriate treatment. Knowing the genetic alterations can help treatment and treatment response.