Multiple Duodeno-jejunal GIST associated with Pheochromocytoma in Patients with Von Recklinghausen Disease

ABSTRACT

Type-I neurofibromatosis (NF-I) is an autosomal dominant hereditary condition that may affect the gastrointestinal tract in 25% of cases. Gastrointestinal stromal tumors(GISTs) are rarely noted in associated with NF-I as an gastrointestinal manifestation. We suggest that iron deficiency anemia in patient with NF-1 mandates the endoscopic and radiologic evaluation of the digestive tract to find or rule out neurofibromas and GISTs. Pheochromocytomas have been clinically identified in 0.1 to 5.5% of patients with NF-I. An adrenal mass may be incidentally discovered in any patients and must be evaluated in patients with NF-1 to exclude pheochromocytoma from diagnosis. This report describes the concomitant occurrence of a multiple duodeno-jejunal GISTs and an adrenal pheochromocytoma in patient with NF-I. Immunohistologically, the tumor cells were intensely positive for CD117, focally positive for S-100 and neuron-specific enolase (NSE), whereas negative for smooth muscle actin, and diagnosed as GISTs. The presence of spindle cell hyperplasia in the myenteric plexus may help to better explain the histogenesis of multiple GISTs.