Are there other conditions associated with an increased probability of developing GIST?
There have also been multiple families reported with GIST and a heritable condition known as “neurofibromatosis type 1” (abbreviated NF1). NF1 is characterized by the development of multiple café-au-lait spots (specific pigmented spots) and neurofibromas (benign growths) on the skin, as well as a distinctive pattern of freckling along the armpit and groin. Only a small subset of individuals with NF1 develop GISTs; other tumors may occur in NF1 as well. Germ-line mutations in the c-kit and PDGFRA genes have not been identified in patients with both NF1 and GIST to date. In the rare condition called the Carney-Stratakis dyad, individuals are at risk to develop GIST and an even less common tumor called a paraganglioma (see question 2). This grouping of cancers is distinct from another condition, referred to as the Carney triad, which also includes a rare tumor not seen in the Carney-Stratakis dyad called a pulmonary chondroma. The Carney triad primarily occurs in young women, and is not t
