Breast Cancer in Neurofibromatosis Type 1: Screening, Diagnostic and Therapeutic Challenges – A Case Report

Abstract

Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by an increased risk of various tumours, including breast cancer, particularly in women under 50. This case report discusses a 47-year-old woman with NF1 who was diagnosed with metastatic invasive ductal carcinoma of the breast. She initially presented with respiratory symptoms, and subsequent clinical evaluation revealed a left breast ulcer and underlying mass, which the patient had attributed to NF1-related cutaneous changes. Histopathological examination confirmed bilateral hormone receptor positive, HER2-negative invasive breast carcinoma with metastatic involvement. Management options, including systemic therapy, were discussed within a multidisciplinary team, and the patient elected to proceed with endocrine therapy using Tamoxifen. This case highlights the clinical complexity of breast cancer detection in individuals with NF1, where overlapping benign cutaneous manifestations may influence symptoms interpretation. It also highlights the importance if early and regular breast cancer screening, beginning at age 30, using appropriate imaging modalities such as mammography and contrast-enhanced breast MRI.  Individualised screening strategies patient education remain essential to optimise outcomes in this high-risk population.