Endocrine pancreatic tumors in von Hippel-Lindau disease: clinical, histological, and genetic features.
OBJECTIVE
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.
Corcos
Olivier
O
Pôle des Maladies de l'Appareil Digestif, AP-HP, Hôpital Beaujon, Clichy, Paris, France.
Couvelard
Anne
A
Giraud
Sophie
S
Vullierme
Marie-Pierre
MP
Dermot O'Toole
Rebours
Vinciane
V
Stievenart
Jean-Louis
JL
Penfornis
Alfred
A
Niccoli-Sire
Patricia
P
Baudin
Eric
E
Sauvanet
Alain
A
Levy
Philippe
P
Ruszniewski
Philippe
P
Richard
Stéphane
S
Hammel
Pascal
P
D000328:Adult; D005260:Female; D005602:France; D015972:Gene Expression Regulation, Neoplastic; D005838:Genotype; D018095:Germ-Line Mutation; D006801:Humans; D007515:Islets of Langerhans / Q000737:chemistry / Q000473:pathology* / Q000601:surgery; D008297:Male; D008875:Middle Aged; D010190:Pancreatic Neoplasms / Q000209:etiology* / Q000235:genetics / Q000401:mortality / Q000473:pathology / Q000601:surgery; D010641:Phenotype; D011379:Prognosis; D011877:Radionuclide Imaging; D017481:Receptors, Somatostatin / Q000032:analysis; D015996:Survival Rate; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*; D006623:von Hippel-Lindau Disease / Q000150:complications* / Q000235:genetics / Q000401:mortality / Q000473:pathology / Q000601:surgery
D017481:Receptors, Somatostatin; C093733:somatostatin receptor 2; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human