Role of disease-causing genes in sporadic pancreatic endocrine tumors: MEN1 and VHL

Patrick S. Moore, Edoardo Missiaglia, Davide Antonello, Alberto Zambó, Giuseppe Zamboni, Vito Corleto, Massimo Falconi, Aldo Scarpa

Research output: Contribution to journalArticle

Abstract

Pancreatic endocrine tumors (PETs) occur in association with multiple endocrine neoplasia type I (MEN1) and von Hippel-Lindau (VHL) syndromes caused by germline alterations in MEN1 and VHL, respectively. It is thus expected that these genes will also be altered in a proportion of sporadic PETs. Indeed, MEN I is altered in about 25% of nonfamilial PETs, although no mutations have been found in VHL. For all clinical subtypes, the frequency of allelic loss on chromosome arm 11q mirrors observed mutational frequencies, with the exception of nonfunctional tumors (NF-PETs), in which mutations have been reported in only 8% of cases. As allelic loss on 11q is the most frequent event found in these neoplasms, this low frequency is somewhat puzzling, particularly in light of the fact that most MEN1-associated PETs are nonfunctioning. To clarify the role of these genes in sporadic PETs, we analyzed 31 sporadic NF-PETs, nine insulinomas, and one VIPoma for alterations in MEN1 and VHL. As somatic mutations were observed in eight (26%) of the NF tumors and in one insulinoma, it would therefore appear unlikely that an additional tumor suppressor gene related to sporadic PET pathogenesis is located on 11q. One insulinoma also had a somatic mutation in VHL, and thus this gene may also be altered in these neoplasms, albeit in a small proportion of cases.

Original languageEnglish
Pages (from-to)177-181
Number of pages5
JournalGenes Chromosomes and Cancer
Volume32
Issue number2
DOIs
Publication statusPublished - 2001

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Multiple Endocrine Neoplasia Type 1
Genes
Neoplasms
Insulinoma
Mutation
Loss of Heterozygosity
Vipoma
von Hippel-Lindau Disease
Tumor Suppressor Genes

ASJC Scopus subject areas

  • Cancer Research
  • Genetics

Cite this

Moore, P. S., Missiaglia, E., Antonello, D., Zambó, A., Zamboni, G., Corleto, V., ... Scarpa, A. (2001). Role of disease-causing genes in sporadic pancreatic endocrine tumors: MEN1 and VHL. Genes Chromosomes and Cancer, 32(2), 177-181. https://doi.org/10.1002/gcc.1180

Role of disease-causing genes in sporadic pancreatic endocrine tumors : MEN1 and VHL. / Moore, Patrick S.; Missiaglia, Edoardo; Antonello, Davide; Zambó, Alberto; Zamboni, Giuseppe; Corleto, Vito; Falconi, Massimo; Scarpa, Aldo.

In: Genes Chromosomes and Cancer, Vol. 32, No. 2, 2001, p. 177-181.

Research output: Contribution to journalArticle

Moore, PS, Missiaglia, E, Antonello, D, Zambó, A, Zamboni, G, Corleto, V, Falconi, M & Scarpa, A 2001, 'Role of disease-causing genes in sporadic pancreatic endocrine tumors: MEN1 and VHL', Genes Chromosomes and Cancer, vol. 32, no. 2, pp. 177-181. https://doi.org/10.1002/gcc.1180
Moore PS, Missiaglia E, Antonello D, Zambó A, Zamboni G, Corleto V et al. Role of disease-causing genes in sporadic pancreatic endocrine tumors: MEN1 and VHL. Genes Chromosomes and Cancer. 2001;32(2):177-181. https://doi.org/10.1002/gcc.1180
Moore, Patrick S. ; Missiaglia, Edoardo ; Antonello, Davide ; Zambó, Alberto ; Zamboni, Giuseppe ; Corleto, Vito ; Falconi, Massimo ; Scarpa, Aldo. / Role of disease-causing genes in sporadic pancreatic endocrine tumors : MEN1 and VHL. In: Genes Chromosomes and Cancer. 2001 ; Vol. 32, No. 2. pp. 177-181.
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