A Pleural Solitary Fibrous Tumor, Multiple Gastrointestinal Stromal Tumors, Moyamoya Disease, and Hyperparathyroidism in a Patient Associated with NF1

Abstract EN

Neurofibromatosis type 1 (NF1), also called von Recklinghausen’s disease, is a multisystemic disease caused by an alteration of the NF1 gene, a tumor suppressor located on the long arm of chromosome 17 (17q11.2).

Loss of the gene function, due to a point mutation, leads to an increase in cell proliferation and the development of several tumors.

We report a 60-year-old female patient manifesting hypercalcemia due to hyperparathyroidism, a solitary fibrous tumor (SFT) of the pleura, multiple gastrointestinal stromal tumors (GISTs), and moyamoya disease associated with NF1.

The SFT and GISTs were removed by staged operations.

Then, hypercalcemia was successfully controlled after resection of the parathyroid adenoma.

Based on a literature review, these combinations have never been reported, and the relevant literature is briefly discussed.