Vasculopathic Changes, a Somatostatin-Producing Neuroendocrine Carcinoma and a Jejunal Gastrointestinal Stromal Tumor in
- PDF / 750,538 Bytes
- 5 Pages / 595.276 x 790.866 pts Page_size
- 86 Downloads / 173 Views
Vasculopathic Changes, a Somatostatin-Producing Neuroendocrine Carcinoma and a Jejunal Gastrointestinal Stromal Tumor in a Patient with Type 1 Neurofibromatosis Runjan Chetty & Rajkumar Vajpeyi
Published online: 2 June 2009 # Humana Press Inc. 2009
Abstract A 36-year-old male with neurofibromatosis type 1 (NF-1) presented with symptoms of obstructive jaundice. Imaging showed a periampullary mass, which on endoscopic retrograde cholangiopancreatography biopsy proved to be a somatostatinoma. A Whipple’s procedure was performed and a somatostatinoma of the duodenum was confirmed. In addition, the patient had a gastrointestinal stromal tumor (GIST) of the jejunum with accompanying hyperplasia of interstitial cells of Cajal. The somatostatinoma was histologically characteristic with pseudoglandular and solid patterns together with psammoma bodies and lymphovascular invasion. The GIST did not display mutations in c-kit or platelet-derived growth factor receptor genes. The novel finding in this case was the presence of several vessels in the submucosa and muscularis propria of the duodenum displaying prominent intimal hyperplasia and in keeping with so-called neurofibromatosis-associated vasculopathy. These abnormal vessels were within and close to the somatostatinoma only and were not found away from the tumor. It is thought that the vasculopathy is related to NF-1 with abnormal neurofibromin possibly playing a role. R. Chetty : R. Vajpeyi Department of Pathology, University Health Network/University of Toronto, Toronto, Ontario, Canada R. Chetty (*) Department of Pathology, University Health Network/Toronto Medical Laboratories, The Toronto General Hospital, 200 Elizabeth Street, 11th Floor, Eaton Wing, Toronto, ON M5G 2C4, Canada e-mail: [email protected]
Keywords neurofibromatosis . somatostatinoma . GIST . vasculopathy Several well-described lesions in various organs have been described in association with neurofibromatosis type 1 (NF1). Endocrine manifestations are uncommon with phaeochromocytoma, gastrointestinal tract (GIT) endocrine tumors and precocious puberty being the most frequently encountered entities [1]. Other gastrointestinal lesions such as ganglioneuromas, gastrointestinal stromal tumors (GIST), and interstitial cell of Cajal hyperplasia have been noted to occur in concert with the endocrine tumors. Neuroendocrine tumors of the duodenum and ampullary region are uncommon when compared to the rest of the GIT and account for only 2% of all carcinoids that occur in the gut [2, 3]. The majority of neuroendocrine tumors that do occur in the duodenum are sporadic but a smaller proportion of examples are associated with NF-1 (von Recklinghausen's disease), the Zollinger–Ellison syndrome, and the multiple endocrine neoplasia syndromes. With regards to GIT endocrine tumors, there is a striking and characteristic association with ampullary or duodenal somatostatin-producing neuroendocrine tumors in NF-1 [2, 4, 5]. Indeed, a so-called somatostatinoma of the periampullary region should alert one to the poss
Data Loading...
