Multiple neurofibromas plus fibrosarcoma with familial NF1 pathogenicity: A case report

Neurofibromatosis (NF) is a genetic disease consisting of seven types, of which types 1 to 4 are caused by a dominant autosomal gene mutation; such disease sometimes arises in patients with NF type 1. However, it remains unclear whether the origin of neurofibrosarcoma is directly linked to the incidence of NF type 1, as no reports have been published on this issue. Here, we report a case of NF1-positive multiple neurofibromas with malignant fibrosarcomatous transformation in the pleural cavity.

A 51-year-old male was admitted to our hospital due to fever accompanied by coughing, chest tightness and asthma for more than one month. The preliminary diagnosis was NF type 1, which was pathologically confirmed by a subsequent thoracoabdominal subcutaneous biopsy. The definitive diagnosis was neurofibrosarcoma with a pathogenic NF1 gene. The patient refused surgery and chemoradiotherapy, and died two months later. NF is a genetic disease consisting of seven types, of which types 1 to 4 are caused by a dominant autosomal gene mutation. The case reported belongs to the class of NF1-positive dominant inheritance. Neurofibrosarcoma is a malignant tumor derived from cells surrounding the peripheral nerves. However, due to the lack of previous reports, it remains unclear whether the origin of neurofibrosarcoma is directly linked to the incidence of NF type 1.

We report the first case of NF1-positive multiple neurofibromas with malignant fibrosarcomatous transformation in the pleural cavity.