Neurofibromatosis type 1 and GIST: is there a correlation?

Neurofibromatosis type 1 (NF1) is a hereditary cancer predisposition syndrome characterized by neurologic, dermatologic and orthopedic 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).

We herein report a case of recurrent asymptomatic GIST in a 50-year-old woman with a history of neurofibromatosis type 1.

NF1-associated GIST has been described to comprise a minority of cases, in which there is an alternative molecular pathogenesis. This difference between NF1-related GISTs and that of the general population has important therapeutic implications. The presence of kinase mutations has been shown to be predictive of clinical response to imatinib, a tyrosine kinase inhibitor.