Triple-negative breast cancer with neurofibromatosis type 1: management challenges

Neurofibromatosis type 1 (NF1) is an autosomal dominant RASopathy associated with increased risk of early-onset breast cancer, particularly triple-negative breast cancer (TNBC). We report a woman in her early 40s with NF1 who presented for elective cosmetic breast surgery and was incidentally found to have a suspicious right breast lesion on screening mammogram. Biopsy confirmed high-grade ductal carcinoma in situ (DCIS) with invasive ductal carcinoma, immunohistochemically triple-negative. Staging investigations revealed no nodal or distant disease. She underwent bilateral mastectomy with right sentinel lymph node biopsy (SLNB), followed by adjuvant docetaxel-cyclophosphamide chemotherapy. Radiotherapy was avoided given the elevated risk of radiation-induced sarcoma (RIS) in NF1. Postoperative reconstruction was staged and ultimately successful. At more than 3 years of follow-up, she remains disease-free with satisfactory cosmetic outcomes. This case highlights the importance of vigilant breast surveillance in NF1, challenges in balancing oncologic control with treatment-related risks, and the need for individualised multidisciplinary care.