Two Cases of Breast Cancer Associated with Neurofibromatosis Type 1

Abstract

Neurofibromatosis type 1 (NF1) is a hereditary disorder characterized by diverse manifestations affecting the skin, bones, and nerves, and is associated with malignant tumors in organs such as the brain, spinal cord, digestive tract, and adrenal glands. Recently, several cases of NF1-associated breast cancer have been reported. Here, we present two cases from our hospital. Case 1 : A 42-year-old woman was diagnosed with right non-invasive ductal carcinoma following the detection of a calcified lesion during routine breast screening. She underwent right breast surgery with sentinel lymph node biopsy and is currently receiving postoperative hormone therapy. Case 2 was a 55-year-old woman who presented with a palpable mass in the right breast. She was diagnosed with metaplastic carcinoma, triple-negative type, cT4bN1M0 stage III B. Progressive skin infiltration during preoperative chemotherapy necessitated right mastectomy, level 2 axillary lymph node dissection, and skin grafting. NF1-associated breast cancer tends to occur at a younger age and may have a poor prognosis. Regular checkups, including breast MRI, are recommended for early detection and improved prognosis, especially in younger NF1 patients.