Pheochromocytoma and Gastrointestinal Stromal Tumors in Patients With Neurofibromatosis Type I

作者：Vlenterie Myrella; Flucke Uta; Hofbauer Lorenz C; Timmers Henri J L M; Gastmeier Joerg; Aust Daniela E; van der Graaf Winette T A; Wesseling Pieter; Eisenhofer Graeme; Lenders Jacques W M^*

来源：American Journal of Medicine, 2013, 126(2): 174-180.

DOI：10.1016/j.amjmed.2012.07.022

BACKGROUND: Neurofibromatosis I may rarely predispose to pheochromocytoma and gastrointestinal stromal tumors. %26lt;br%26gt;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. %26lt;br%26gt;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. %26lt;br%26gt;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.

• 出版日期2013-2