Document Detail

Pheochromocytoma and gastrointestinal stromal tumors in patients with neurofibromatosis type I.
MedLine Citation:
PMID:  23331445     Owner:  NLM     Status:  In-Data-Review    
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.
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
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The American journal of medicine     Volume:  126     ISSN:  1555-7162     ISO Abbreviation:  Am. J. Med.     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-01-21     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0267200     Medline TA:  Am J Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  174-80     Citation Subset:  AIM; IM    
Copyright Information:
Copyright © 2013 Elsevier Inc. All rights reserved.
Department of Medical Oncology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
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