PDGFRA-Mutant Syndrome of Familial Gastrointestinal Stromal Tumors (GIST)

Synonym: intestinal neurofibromatosis/neurofibromatosis 3b (INF/NF3b)

Chromosome location: 4q12

Gene affected: PDGFRA (platelet-derived growth factor receptor, alpha polypeptide

Inheritance: autosomal dominant

Clinical and pathologic features:

(1) >= 2 inflammatory fibroid polyps (including fibrous tumors) and/or GIST in an individual or family

(2) variable gastrointestinal lipomas

(3) variable large hands

The diagnosis requires demonstration of a PDGFRA germline mutation.

Other tumors associated with PDGFRA mutations:

(1) idiopathic hypereosinophilia syndrome

(2) hepatocellular carcinoma