Endocrine pancreatic tumors in von Hippel-Lindau disease: clinical, histological, and genetic features

• Published in: Pancreas Vol. 37; no. 1; p. 85
• Main Authors: Corcos, Olivier, Couvelard, Anne, Giraud, Sophie, Vullierme, Marie-Pierre, Dermot O'Toole, Rebours, Vinciane, Stievenart, Jean-Louis, Penfornis, Alfred, Niccoli-Sire, Patricia, Baudin, Eric, Sauvanet, Alain, Levy, Philippe, Ruszniewski, Philippe, Richard, Stéphane, Hammel, Pascal
• Format: Journal Article
• Language: English
• Published: United States 01.07.2008
• Subjects: Adult; Female; France; Gene Expression Regulation, Neoplastic; Genotype; Germ-Line Mutation; Humans; Islets of Langerhans - chemistry; Islets of Langerhans - pathology; Islets of Langerhans - surgery; Male; Middle Aged; Pancreatic Neoplasms - etiology; Pancreatic Neoplasms - genetics; Pancreatic Neoplasms - mortality; Pancreatic Neoplasms - pathology; Pancreatic Neoplasms - surgery; Phenotype; Prognosis; Radionuclide Imaging; Receptors, Somatostatin - analysis; Survival Rate; Tomography, X-Ray Computed; Treatment Outcome; von Hippel-Lindau Disease - complications; von Hippel-Lindau Disease - genetics; von Hippel-Lindau Disease - mortality; von Hippel-Lindau Disease - pathology; von Hippel-Lindau Disease - surgery; Von Hippel-Lindau Tumor Suppressor Protein - genetics
• ISSN: 1536-4828
• DOI: 10.1097/MPA.0b013e31815f394a

Endocrine pancreatic tumors (EPTs) in von Hippel-Lindau (VHL) disease pose difficult management problems. We aimed to assess (1) the accuracy of somatostatin receptor scintigraphy, (2) histological features with focus on malignancy and genotype-phenotype correlations, and (3) prognosis of VHL-EPT. Thirty-five patients with EPT-VHL (20 women; median age, 37 years) from 29 families were studied. Histological diagnosis was available in 29 patients. Endocrine pancreatic tumor patients were treated surgically (n = 22), medically (n = 8), or followed (n = 5). Somatostatin receptor scintigraphy was performed in 27 patients. Germinal alterations of the VHL gene were determined. Tumors were malignant in 58% of patients. Somatostatin receptor scintigraphy was positive in 60% of cases, and weak expression of the somatostatin receptor type 2A was found in 47% of tumors. In operated patients, there was no mortality or tumor relapse (median follow-up, 5 [1-10] years). Mortality rate due to EPT was 6%. Germinal mutations were mainly located in exons 3 and 1, and a specific mutation (P86S) was identified. Most EPTs in VHL patients are somatostatin receptor scintigraphy-positive and malignant, without correlation with the VHL genotype. Surgical resection is often required, but prognosis of these EPTs seems to be fairly good.