Bilateral Breast Cancer in a Patient with Neurofibromatosis Type 1: A Case Report

Area of Science:

• Oncology
• Medical Imaging
• Genetics

Background:

• Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by abnormal cell growth in nerve tissue.
• NF1 is associated with an elevated risk of developing various malignancies.
• Early detection and comprehensive management are crucial for patients with NF1.

Observation:

• A 49-year-old woman with a history of NF1 presented with bilateral breast masses.
• Sonography revealed a microlobulated oval hypoechoic mass in one breast and a complex cystic solid mass in the other.
• The patient underwent bilateral mastectomy for diagnosis and treatment.

Findings:

• Histopathological examination confirmed invasive ductal carcinoma and ductal carcinoma in situ in both breasts.
• A rare finding was the co-occurrence of a malignant peripheral nerve sheath tumor (MPNST) within the breast tissue.
• Multimodality imaging, including ultrasonography, CT, and 18F-fluorodeoxyglucose PET, was utilized to characterize the lesions.

Implications:

• This case underscores the importance of heightened surveillance for breast cancer in women with NF1.
• The presence of MPNST in the breast, though rare, should be considered in the differential diagnosis for NF1 patients.
• Integrating advanced imaging techniques aids in the accurate diagnosis and staging of complex neoplastic processes in NF1.