ICC hyperplasia, localized type [12,13,17,18] |
Microscopic, rarely through careful palpation/inspection |
≤5 mm, usually <2 mm |
Usually irregular borders, blend with M. propria Rarely diffuse segmental |
Usually focal, occasionally multifocal |
Sporadic Usually incidental histological findings |
Esophagogastric junction (∼10%) Proximal stomach (-35%) Colorectum (0.2%) |
Somatic heterozygous mutations in c-KIT (∼25%) |
ICC hyperplasia, diffuse type [14-16,26,29] |
Microscopic, rarely thickening of M. propria |
Variable, commonly confluent |
Diffuse to nodular, Usually both |
Usually multifocal or continuous |
Hereditary Rarely congenital with neuronal intestinal dysplasia (very rare Carney triad) |
Variable, any part of GI tract. In NF-1 mostly in small bowel |
Germline c-KIT/PDGFRA mutations NF-1 (wild-type KIT/PDGFRA) |
GIST tumorlets [30,31] |
Grossly visible or palpable |
5-10 mm |
Usually irregular borders, blending with M. propria |
∼10% multifocal |
Usually sporadic |
Proximal stomach, rarely others |
Rarely sporadic c-KIT mutations |
Incidental benign GIST [2,23,24] |
Grossly visible or palpable |
>10-20 mm |
Well circumscribed but nonencapsulated |
Rarely multifocal |
Usually sporadic |
Variable, usually proximal stomach, occasionally small bowel and others |
Commonly somatic heterozygous mutations in c-KIT or PDGFRA (∼90%) |