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.
Fatima et al. (Wed,) studied this question.
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