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  • Title: [Neurofibromatosis and a tumor of Vater's papilla].
    Author: de Mol van Otterloo JC, Ooms EC, Lips CJ, Berends MJ, Koumans RK.
    Journal: Ned Tijdschr Geneeskd; 1991 Sep 07; 135(36):1646-9. PubMed ID: 1922504.
    Abstract:
    A male aged 57 is reported with neurofibromatosis presenting with a tumour in the periampullary region. Pathologic examination revealed a neuroendocrine tumour of the carcinoid type. A review of the literature suggests that neurofibromatosis patients are at significant risk for developing a periampullary tumour which is nearly always of neuroectodermal origin. To date, surgical excision is the only curative therapy. Therefore, early diagnosis is of major importance. In all patients with neurofibromatosis presenting with jaundice, gastrointestinal bleeding or abdominal pain, a periampullary tumour should be considered. A review is presented of the latest developments concerning the DNA-based mutation causing this disorder. In family members, DNA linkage studies should be carried out, and they should be periodically screened, e.g. with gastroduodenoscopy.
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