A 46-year-old woman was admitted for anemic (Hb 10 g/dl, Hto 30%) and constitutional syndrome.
Physical examination revealed "milky coffee" spots on the back and neck, and multiple neurofibromas.
The abdomen was blando, tender to palpation palpable in hypogastrium and periumbilical area, with no masses and conserved peristalsis.
The rectal examination was normal.
The patient reported a phenotype similar to her father.
Abdominal ultrasound showed thickening of the wall of an intestinal loop in a 3 cm trajectory, and abdominal CT showed the presence of an intraluminal tumor of 10 cm in the ascending colon.
Surgery was performed, finding 3 tumors, larger than 12 cm, encompassing terminal ileum and cecum, and two other 3.5 and 1.2 cm, proximal to the first.
The pathology report, compatible with GIST, described fusiform nodular formation, with marked positivity for CD 117, CD 34, and negativity for S-100.
