Malignant periperal nerve sheath tumor of the breast in a patient with neurofibroma type 1: An unusual presentation

Abstract

Breast cancer of mesenchymal origin is rare. Malignant peripheral nerve sheath tumors (MPNST) are believed to derived from peripheral nerves or demonstrate peripheral nerve differentiation. They represent only 5-10% of all malignant soft tissue sarcomas with an incidence of 4% in patients with neurofibromatosis type 1 syndrome and 0.001% in general population. We present a 40-year-old woman with Von Recklinghausen's disease diagnosed 10 years prior to presentation and complain of right breast lump of 3 months duration that rapidly increase to affect the whole breast. The overlying skin ulcerated spontaneously with preservation of the nipple areola complex. Examination revealed features of Neurofibromatosis type 1. The right breast contained a hard mass with an overlying ulcer. Axillary lymph nodes were not enlarged. Incisional biopsy of the ulcer revealed features of neurofibromatosis. A chest radiograph revealed pleural effusion while abdominal ultrasound revealed liver metastasis. A diagnosis of metastatic peripheral nerve sheath tumour was made. The challenges in the diagnosis and treatment of this patient are discussed.