TY - JOUR
T1 - Endocrine pancreatic tumors in von hippel-lindau disease
T2 - Clinical, histological, and genetic features
AU - Corcos, Olivier
AU - Couvelard, Anne
AU - Giraud, Sophie
AU - Vullierme, Marie Pierre
AU - Dermot O'Toole, O'Toole
AU - Rebours, Vinciane
AU - Stievenart, Jean Louis
AU - Penfornis, Alfred
AU - Niccoli-Sire, Patricia
AU - Baudin, Eric
AU - Sauvanet, Alain
AU - Levy, Philippe
AU - Ruszniewski, Philippe
AU - Richard, Stéphane
AU - Hammel, Pascal
PY - 2008/7/1
Y1 - 2008/7/1
N2 - OBJECTIVES:: 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. METHODS:: 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. RESULTS:: 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. CONCLUSIONS:: 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.
AB - OBJECTIVES:: 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. METHODS:: 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. RESULTS:: 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. CONCLUSIONS:: 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.
KW - Endocrine carcinoma
KW - Endocrine tumors
KW - Pancreas
KW - Somatostatin receptor scintigraphy
KW - Survival
KW - Von Hippel-Lindau disease
UR - http://www.scopus.com/inward/record.url?scp=49649106968&partnerID=8YFLogxK
U2 - 10.1097/MPA.0b013e31815f394a
DO - 10.1097/MPA.0b013e31815f394a
M3 - Article
C2 - 18580449
AN - SCOPUS:49649106968
SN - 0885-3177
VL - 37
SP - 85
EP - 93
JO - Pancreas
JF - Pancreas
IS - 1
ER -