[Multiple gastro-intestinal stromal tumors (GIST) in a patient with type I neurofibromatosis revealed by chronic bleeding: pre-operative radiological diagnosis].
Recent studies have pointed out a high incidence of GIST, usually multiple and of small intestinal location, in patients with type I neurofibromatosis. We here report an additional case, revealed by chronic gastro-intestinal bleeding and diagnosed at pre-operative imaging studies. A 56-year-old patient, with known type I neurofibromatosis, was referred to our department for the exploration of chronic gastro-intestinal bleeding during anti-aggregant therapy. Endoscopical examination was negative. Enteroscanner showed the presence of four tumor lesions, 3 in the jejunum and 1 in the ileum. Segmental surgical resections were performed. At histological examination, 2 of among the 3 jejunal lesions were diagnosed as typical GIST, of low risk of malignancy, CD117+, CD34+, whereas the last jejunal and ileal lesions were identified as fibroid tumors. Mutations of c-kit gene and of the gene coding for PDGF-Ralpha were not detected. Post-operative recovery was uneventful; no recurrent bleeding was observed. Our case report underlines the potential role of enteroscanner in the management of patients with type I neurofibromatosis with possible digestive complications. It also emphasizes the importance of an accurate diagnosis of the digestive tumors associated with type I neurofibromatosis: GISTs are frequent in this setting and must not be misdiagnosed as neurofibromas.
Fédération des Spécialités Digestives, Hôpital Edouard Herriot, Lyon. guillaud@lyon.inserm.fr
Olivier
O
Guillaud
Jérôme
J
Dumortier
Pierre-Paul
PP
Bringuier
Jean-Christophe
JC
Saurin
Gilles
G
Poncet
Jean
J
Boulez
Luc
L
Henry
Jean-Alain
JA
Chayvialle
Jean-Yves
JY
Scoazec
D002908:Chronic Disease; D006471:Gastrointestinal Hemorrhage / Q000209:etiology*; D046152:Gastrointestinal Stromal Tumors / Q000150:complications / Q000175:diagnosis* / Q000601:surgery; D006801:Humans; D008297:Male; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000150:complications*