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Systematic comparison of sporadic and syndromic pancreatic islet cell tumors

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Systematic comparison of sporadic and syndromic pancreatic islet cell tumors. / 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; Fasshauer, Mathias; Langrehr, Jan; von Wussow, Peter; Agaimy, Abbas; Schlimok, Günter; Lamberts, Regina; Wiech, Thorsten; Schmid, Kurt Werner; Weber, Alexander; Nunez, Mercedes; Robledo, Mercedes; Eng, Charis; Neumann, Hartmut P H; VHL-ICT Consortium.

in: ENDOCR-RELAT CANCER, Jahrgang 17, Nr. 4, 01.12.2010, S. 875-83.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Erlic, Z, Ploeckinger, U, Cascon, A, Hoffmann, MM, von Duecker, L, Winter, A, Kammel, G, Bacher, J, Sullivan, M, Isermann, B, Fischer, L, Raffel, A, Knoefel, WT, Schott, M, Baumann, T, Schaefer, O, Keck, T, Baum, RP, Milos, I, Muresan, M, Peczkowska, M, Januszewicz, A, Cupisti, K, Tönjes, A, Fasshauer, M, Langrehr, J, von Wussow, P, Agaimy, A, Schlimok, G, Lamberts, R, Wiech, T, Schmid, KW, Weber, A, Nunez, M, Robledo, M, Eng, C, Neumann, HPH & VHL-ICT Consortium 2010, 'Systematic comparison of sporadic and syndromic pancreatic islet cell tumors', ENDOCR-RELAT CANCER, Jg. 17, Nr. 4, S. 875-83. https://doi.org/10.1677/ERC-10-0037

APA

Erlic, Z., Ploeckinger, U., Cascon, A., Hoffmann, M. M., von Duecker, L., Winter, A., Kammel, G., Bacher, J., Sullivan, M., Isermann, B., Fischer, L., Raffel, A., Knoefel, W. T., Schott, M., Baumann, T., Schaefer, O., Keck, T., Baum, R. P., Milos, I., ... VHL-ICT Consortium (2010). Systematic comparison of sporadic and syndromic pancreatic islet cell tumors. ENDOCR-RELAT CANCER, 17(4), 875-83. https://doi.org/10.1677/ERC-10-0037

Vancouver

Erlic Z, Ploeckinger U, Cascon A, Hoffmann MM, von Duecker L, Winter A et al. Systematic comparison of sporadic and syndromic pancreatic islet cell tumors. ENDOCR-RELAT CANCER. 2010 Dez 1;17(4):875-83. https://doi.org/10.1677/ERC-10-0037

Bibtex

@article{85b8f4171b824ea4beb1802bf2577abe,
title = "Systematic comparison of sporadic and syndromic pancreatic islet cell tumors",
abstract = "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 MEN1 and VHL genes for intragenic mutations and large deletions. In the NET-Registry, 9/101 patients (8.9%) with ICTs had germline mutations, 8 in MEN1 and 1 in VHL. In the VHL-Registry, prevalence of NETs was 52/487 (10.6%), and all were ICTs. Interestingly, of those with VHL 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 (P=0.01), multifocal ICTs (P=0.0029), and lower malignancy rate (P<0.001) in VHL-ICTs compared to sporadic cases. VHL was prevalent in <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 VHL gene, unless they have multifocal ICTs, other VHL-associated tumors, and/or a family history for VHL.",
keywords = "Adolescent, Adult, Aged, Aged, 80 and over, Child, DNA, Neoplasm, Female, Genetic Variation, Germ-Line Mutation, Germany, Humans, Male, Middle Aged, Multiple Endocrine Neoplasia Type 1, Neuroendocrine Tumors, Polymerase Chain Reaction, Prevalence, Sequence Analysis, DNA, Young Adult, von Hippel-Lindau Disease",
author = "Zoran Erlic and Ursula Ploeckinger and Alberto Cascon and Hoffmann, {Michael M} and {von Duecker}, Laura and Aurelia Winter and Gerit Kammel and Janina Bacher and Maren Sullivan and Berend Isermann and Lars Fischer and Andreas Raffel and Knoefel, {Wolfram Trudo} and Matthias Schott and Tobias Baumann and Oliver Schaefer and Tobias Keck and Baum, {Richard P} and Ioana Milos and Mihaela Muresan and Mariola Peczkowska and Andrzej Januszewicz and Kenko Cupisti and Anke T{\"o}njes and Mathias Fasshauer and Jan Langrehr and {von Wussow}, Peter and Abbas Agaimy and G{\"u}nter Schlimok and Regina Lamberts and Thorsten Wiech and Schmid, {Kurt Werner} and Alexander Weber and Mercedes Nunez and Mercedes Robledo and Charis Eng and Neumann, {Hartmut P H} and {VHL-ICT Consortium}",
year = "2010",
month = dec,
day = "1",
doi = "10.1677/ERC-10-0037",
language = "English",
volume = "17",
pages = "875--83",
journal = "ENDOCR-RELAT CANCER",
issn = "1351-0088",
publisher = "Society for Endocrinology",
number = "4",

}

RIS

TY - JOUR

T1 - Systematic comparison of sporadic and syndromic pancreatic islet cell tumors

AU - Erlic, Zoran

AU - Ploeckinger, Ursula

AU - Cascon, Alberto

AU - Hoffmann, Michael M

AU - von Duecker, Laura

AU - Winter, Aurelia

AU - Kammel, Gerit

AU - Bacher, Janina

AU - Sullivan, Maren

AU - Isermann, Berend

AU - Fischer, Lars

AU - Raffel, Andreas

AU - Knoefel, Wolfram Trudo

AU - Schott, Matthias

AU - Baumann, Tobias

AU - Schaefer, Oliver

AU - Keck, Tobias

AU - Baum, Richard P

AU - Milos, Ioana

AU - Muresan, Mihaela

AU - Peczkowska, Mariola

AU - Januszewicz, Andrzej

AU - Cupisti, Kenko

AU - Tönjes, Anke

AU - Fasshauer, Mathias

AU - Langrehr, Jan

AU - von Wussow, Peter

AU - Agaimy, Abbas

AU - Schlimok, Günter

AU - Lamberts, Regina

AU - Wiech, Thorsten

AU - Schmid, Kurt Werner

AU - Weber, Alexander

AU - Nunez, Mercedes

AU - Robledo, Mercedes

AU - Eng, Charis

AU - Neumann, Hartmut P H

AU - VHL-ICT Consortium

PY - 2010/12/1

Y1 - 2010/12/1

N2 - 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 MEN1 and VHL genes for intragenic mutations and large deletions. In the NET-Registry, 9/101 patients (8.9%) with ICTs had germline mutations, 8 in MEN1 and 1 in VHL. In the VHL-Registry, prevalence of NETs was 52/487 (10.6%), and all were ICTs. Interestingly, of those with VHL 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 (P=0.01), multifocal ICTs (P=0.0029), and lower malignancy rate (P<0.001) in VHL-ICTs compared to sporadic cases. VHL was prevalent in <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 VHL gene, unless they have multifocal ICTs, other VHL-associated tumors, and/or a family history for VHL.

AB - 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 MEN1 and VHL genes for intragenic mutations and large deletions. In the NET-Registry, 9/101 patients (8.9%) with ICTs had germline mutations, 8 in MEN1 and 1 in VHL. In the VHL-Registry, prevalence of NETs was 52/487 (10.6%), and all were ICTs. Interestingly, of those with VHL 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 (P=0.01), multifocal ICTs (P=0.0029), and lower malignancy rate (P<0.001) in VHL-ICTs compared to sporadic cases. VHL was prevalent in <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 VHL gene, unless they have multifocal ICTs, other VHL-associated tumors, and/or a family history for VHL.

KW - Adolescent

KW - Adult

KW - Aged

KW - Aged, 80 and over

KW - Child

KW - DNA, Neoplasm

KW - Female

KW - Genetic Variation

KW - Germ-Line Mutation

KW - Germany

KW - Humans

KW - Male

KW - Middle Aged

KW - Multiple Endocrine Neoplasia Type 1

KW - Neuroendocrine Tumors

KW - Polymerase Chain Reaction

KW - Prevalence

KW - Sequence Analysis, DNA

KW - Young Adult

KW - von Hippel-Lindau Disease

U2 - 10.1677/ERC-10-0037

DO - 10.1677/ERC-10-0037

M3 - SCORING: Journal article

C2 - 20660572

VL - 17

SP - 875

EP - 883

JO - ENDOCR-RELAT CANCER

JF - ENDOCR-RELAT CANCER

SN - 1351-0088

IS - 4

ER -