We describe the pathology, genetics, the incomplete penetrance and variable expressivity of the familialPDGFRA-mutation syndrome referencing the mouse knock-in Pdgfra model.
The purpose of this study was to test the hypothesis that intestinal lipomas occurring in patients devoid of signs of PDGFRA-mutant syndrome might represent sporadic counterparts of familial lipomatous tumors occurring in the spectrum of tumors associated with PDGFRA mutations.
GIST pathogenesis is driven by receptor tyrosine kinase-activating mutations most often in KIT or PDGFRA that may be sporadic or result in familial GIST syndromes.