Pheochromocytoma and gastrointestinal stromal tumors in patients with neurofibromatosis type i

Myrella Vlenterie, Uta Flucke, Lorenz C. Hofbauer, Henri J.L.M. Timmers, Joerg Gastmeier, Daniela E. Aust, Winette T.A. Van Der Graaf, Pieter Wesseling, Graeme Eisenhofer, Jacques W.M. Lenders

Onderzoeksoutput: Bijdrage aan tijdschriftArtikelpeer review

25 Citaten (Scopus)


Background: Neurofibromatosis I may rarely predispose to pheochromocytoma and gastrointestinal stromal tumors. Methods: A 59-year-old woman with neurofibromatosis I presented with pheochromocytoma of the left adrenal gland. During surgery, 3 gastrointestinal stromal tumors adjacent to the stomach and small intestine were removed. Despite appropriate thrombosis prophylaxis, the patient died of a pulmonary embolus 2 days postoperatively. The second patient, a 55-year-old man with neurofibromatosis I and bilateral pheochromocytomas, had several small gastrointestinal stromal tumors adjacent to the jejunum during surgery. A review of the literature was conducted to identify patients with neurofibromatosis I with concurrence of pheochromocytoma and gastrointestinal stromal tumors and to define the specific clinical features of these patients. Results: In addition to our 2 patients, 12 other cases of neurofibromatosis I with concomitant occurrence of pheochromocytomas and gastrointestinal stromal tumors have been reported. Pheochromocytomas had adrenal locations in all patients. Two of the 14 patients had a mixed pheochromocytoma/ganglioneuroma. In 4 of the 14 patients, gastrointestinal stromal tumors were located along the stomach. The gastrointestinal stromal tumors in our 2 patients showed no somatic mutations in KIT and PDGFRA genes. A pulmonary embolism was diagnosed in 4 patients. Conclusions: The simultaneous occurrence of pheochromocytoma and gastrointestinal stromal tumor should be considered in all patients with neurofibromatosis I presenting with an abdominal mass with symptoms suggestive of pheochromocytoma. Therefore, a pheochromocytoma should be excluded before a patient with neurofibromatosis I undergoes surgery for a gastrointestinal stromal tumor because an undiagnosed pheochromocytoma carries a high risk of life-threatening cardiovascular complications during surgery. Finally, this combination may be associated with an increased risk for thromboembolic events, but more studies are necessary to confirm this.

Originele taal-2Engels
Pagina's (van-tot)174-180
Aantal pagina's7
TijdschriftAmerican Journal of Medicine
Nummer van het tijdschrift2
StatusGepubliceerd - feb. 2013
Extern gepubliceerdJa


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