Gastrointestinal Stromal Tumor (GIST) in a Patient with Neurofibromatosis Type 1: Case Report

Neurofibromatosis type 1 (NF1) is a hereditary cancer predisposition syndrome which is characterized by neurologic, dermatologic and orthopaedic manifestations. There is a spectrum of tumors that affects individuals with NF1 at an increased incidence compared to the general population, such as neurofibromas, Malignant Peripheral Nerve Sheath Tumors (MPNST) and gliomas. There has been a growing number of literature reporting an association between NF1 and Gastrointestinal Stromal Tumors (GIST). It is the most common genetic syndrome with an incidence of 1 in 2,500 to 3,000 and a prevalence of 1 in 4,000 to 5,000 [1]. It has an autosomal dominant pattern of inheritance with complete penetrance; however, as many as 50% of affected individuals have been reported to be sporadic cases [2,3]. NF1 is further defined by its variable expression, resulting in a wide array of clini