Endocrine pancreatic tumors in von hippel-lindau disease: Clinical, histological, and genetic features

Olivier Corcos, Anne Couvelard, Sophie Giraud, Marie Pierre Vullierme, O'Toole Dermot O'Toole, Vinciane Rebours, Jean Louis Stievenart, Alfred Penfornis, Patricia Niccoli-Sire, Eric Baudin, Alain Sauvanet, Philippe Levy, Philippe Ruszniewski, Stéphane Richard, Pascal Hammel

    Résultats de recherche: Contribution à un journalArticleRevue par des pairs

    73 Citations (Scopus)

    Résumé

    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.

    langue originaleAnglais
    Pages (de - à)85-93
    Nombre de pages9
    journalPancreas
    Volume37
    Numéro de publication1
    Les DOIs
    étatPublié - 1 juil. 2008

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