Gastrointestinal Stromal Tumor (GIST)

Multiple, Hereditary and/or Pediatric GIST – (all are frequently multiple; select individual disorders for details)

	Heredity	Mean Age	M/F	Associated Lesions	Mutations	GIST Location	Behavior
Familial	AD	45	M&F	Mast cell lesions, achalasia	GL KIT /PDGFRA	Small intestine	Frequently aggressive
Carney-Stratakis	AD	23	M&F	Paraganglioma	GL SDH, No KIT / PDGFRA	Stomach epithelioid	GIST mets but protracted, Paragang. aggressive
Carney Triad	None	<30	>95%F	Lung chondroma, paraganglioma	No KIT / PDGFRA or SDH	Stomach epithelioid	Mets but protracted course
NF1	AD	40-50	M&F	Neurofibromatosis	GL SDH, No KIT / PDGFRA	Small intestine spindled	As for usual
Sporadic SDHB Deficient (Pediatric Type)	None	<16, rarely also adults	>90%F	None	No KIT / PDGFRA or SDH	Stomach epithelioid	Mets but protracted course, may go to nodes
Sporadic multiple	None	60	M&F	None	As for usual	Usually stomach	Most are benign

AD = autosomal dominant, GL = germ line, SDH = succinate dehydrogenase, paragang = paraganglioma, mets = metastases
Mutations entries refer to germ line and somatic unless indicated otherwise; “Most negative” indicates that while a minority of cases may have somatic mutations in KIT or PDFGRA, most do not, in spite of positive staining for KIT.
Incidental microscopic (seedling) GIST do not apply to the definitions of any of these syndromes; they can be found in up to 10% of esophagogastrectomies but are rarer in other sites

Gastrointestinal Stromal Tumor (GIST)