Almost all cases of GIST are considered to result from somatic mutations in the proto-oncogene c-kit, with rare KIT-negative cases associated with hereditary syndromes, such as in the case of neurofibromatosis type I 7, 1.
Casi todos los casos de GIST son considerados el resultado de mutaciones somáticas en el proto-oncogen c-kit, existiendo raros casos KIT negativos asociados a síndromes hereditarios, como la neurofibromatosis tipo I 1, 7.