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Erlic, Zoran; Ploeckinger, Ursula; Cascon, Alberto; Hoffmann, Michael M; von Duecker, Laura; Winter, Aurelia; Kammel, Gerit; Bacher, Janina; Sullivan, Maren; Isermann, Berend; Fischer, Lars; Raffel, Andreas; Knoefel, Wolfram Trudo; Schott, Matthias; Baumann, Tobias; Schaefer, Oliver; Keck, Tobias; Baum, Richard P; Milos, Ioana; Muresan, Mihaela; Peczkowska, Mariola; Januszewicz, Andrzej; Cupisti, Kenko; Tönjes, Anke; [...]

Systematic comparison of sporadic and syndromic pancreatic islet cell tumors

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  • Media type: E-Article
  • Title: Systematic comparison of sporadic and syndromic pancreatic islet cell tumors
  • Contributor: Erlic, Zoran; Ploeckinger, Ursula; Cascon, Alberto; Hoffmann, Michael M; von Duecker, Laura; Winter, Aurelia; Kammel, Gerit; Bacher, Janina; Sullivan, Maren; Isermann, Berend; Fischer, Lars; Raffel, Andreas; Knoefel, Wolfram Trudo; Schott, Matthias; Baumann, Tobias; Schaefer, Oliver; Keck, Tobias; Baum, Richard P; Milos, Ioana; Muresan, Mihaela; Peczkowska, Mariola; Januszewicz, Andrzej; Cupisti, Kenko; Tönjes, Anke; [...]
  • imprint: Bioscientifica, 2010
  • Published in: Endocrine-Related Cancer
  • Language: Not determined
  • DOI: 10.1677/erc-10-0037
  • ISSN: 1351-0088; 1479-6821
  • Origination:
  • Footnote:
  • Description: <jats:p>Pancreatic islet cell tumors (ICTs) occur as sporadic neoplasias or as a manifestation of multiple endocrine neoplasia type 1 (MEN1) and von Hippel–Lindau disease (VHL). Molecular classification of ICTs is mandatory for timely diagnosis and surveillance. Systematic comparison of VHL-ICTs and sporadic ICTs has been lacking. Our registry-based approaches used the German NET-Registry with 259 patients with neuroendocrine tumors (NETs), who were primarily diagnosed with NETs, and the German VHL-Registry with 485 molecular genetically confirmed patients who had undergone magnetic resonance imaging or computed tomography of the abdomen. All patients provided blood DNA for testing of the <jats:italic>MEN1</jats:italic> and <jats:italic>VHL</jats:italic> genes for intragenic mutations and large deletions. In the NET-Registry, 9/101 patients (8.9%) with ICTs had germline mutations, 8 in <jats:italic>MEN1</jats:italic> and 1 in <jats:italic>VHL</jats:italic>. In the VHL-Registry, prevalence of NETs was 52/487 (10.6%), and all were ICTs. Interestingly, of those with <jats:italic>VHL</jats:italic> p.R167W, 47% developed ICTs, compared to 2% of those with p.Y98H. In total, there were 92 truly sporadic, i.e. mutation-negative ICT patients. Comparing these with the 53 VHL-ICT patients, the statistically significant differences were predominance of female gender (<jats:italic>P</jats:italic>=0.01), multifocal ICTs (<jats:italic>P</jats:italic>=0.0029), and lower malignancy rate (<jats:italic>P</jats:italic>&lt;0.001) in VHL-ICTs compared to sporadic cases. VHL was prevalent in &lt;0.5% of NETs, while NETs occur in ∼10% of VHL, virtually exclusively as ICTs, which are rarely the first presentation. Patients with NETs should not be subjected to genetic testing of the <jats:italic>VHL</jats:italic> gene, unless they have multifocal ICTs, other VHL-associated tumors, and/or a family history for VHL.</jats:p>
  • Access State: Open Access