PMID- 20660572
OWN - NLM
STAT- MEDLINE
DCOM- 20110215
LR  - 20220410
IS  - 1479-6821 (Electronic)
IS  - 1351-0088 (Linking)
VI  - 17
IP  - 4
DP  - 2010 Dec
TI  - Systematic comparison of sporadic and syndromic pancreatic islet cell tumors.
PG  - 875-83
LID - 10.1677/ERC-10-0037 [doi]
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  approximately 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.
FAU - Erlic, Zoran
AU  - Erlic Z
AD  - Department of Nephrology, Albert-Ludwigs-University, Freiburg, Germany.
FAU - Ploeckinger, Ursula
AU  - Ploeckinger U
FAU - Cascon, Alberto
AU  - Cascon A
FAU - Hoffmann, Michael M
AU  - Hoffmann MM
FAU - von Duecker, Laura
AU  - von Duecker L
FAU - Winter, Aurelia
AU  - Winter A
FAU - Kammel, Gerit
AU  - Kammel G
FAU - Bacher, Janina
AU  - Bacher J
FAU - Sullivan, Maren
AU  - Sullivan M
FAU - Isermann, Berend
AU  - Isermann B
FAU - Fischer, Lars
AU  - Fischer L
FAU - Raffel, Andreas
AU  - Raffel A
FAU - Knoefel, Wolfram Trudo
AU  - Knoefel WT
FAU - Schott, Matthias
AU  - Schott M
FAU - Baumann, Tobias
AU  - Baumann T
FAU - Schaefer, Oliver
AU  - Schaefer O
FAU - Keck, Tobias
AU  - Keck T
FAU - Baum, Richard P
AU  - Baum RP
FAU - Milos, Ioana
AU  - Milos I
FAU - Muresan, Mihaela
AU  - Muresan M
FAU - Peczkowska, Mariola
AU  - Peczkowska M
FAU - Januszewicz, Andrzej
AU  - Januszewicz A
FAU - Cupisti, Kenko
AU  - Cupisti K
FAU - Tonjes, Anke
AU  - Tonjes A
FAU - Fasshauer, Mathias
AU  - Fasshauer M
FAU - Langrehr, Jan
AU  - Langrehr J
FAU - von Wussow, Peter
AU  - von Wussow P
FAU - Agaimy, Abbas
AU  - Agaimy A
FAU - Schlimok, Gunter
AU  - Schlimok G
FAU - Lamberts, Regina
AU  - Lamberts R
FAU - Wiech, Thorsten
AU  - Wiech T
FAU - Schmid, Kurt Werner
AU  - Schmid KW
FAU - Weber, Alexander
AU  - Weber A
FAU - Nunez, Mercedes
AU  - Nunez M
FAU - Robledo, Mercedes
AU  - Robledo M
FAU - Eng, Charis
AU  - Eng C
FAU - Neumann, Hartmut P H
AU  - Neumann HP
CN  - VHL-ICT Consortium
CN  - German NET Registry
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20101005
PL  - England
TA  - Endocr Relat Cancer
JT  - Endocrine-related cancer
JID - 9436481
RN  - 0 (DNA, Neoplasm)
SB  - IM
MH  - Adenoma, Islet Cell
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Child
MH  - DNA, Neoplasm/chemistry/genetics
MH  - Female
MH  - Genetic Variation
MH  - Germ-Line Mutation
MH  - Germany/epidemiology
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/epidemiology/*genetics
MH  - Neuroendocrine Tumors/epidemiology/genetics
MH  - Polymerase Chain Reaction
MH  - Prevalence
MH  - Sequence Analysis, DNA
MH  - Young Adult
MH  - von Hippel-Lindau Disease/epidemiology/*genetics
EDAT- 2010/07/28 06:00
MHDA- 2011/02/16 06:00
CRDT- 2010/07/28 06:00
PHST- 2010/07/28 06:00 [entrez]
PHST- 2010/07/28 06:00 [pubmed]
PHST- 2011/02/16 06:00 [medline]
AID - ERC-10-0037 [pii]
AID - 10.1677/ERC-10-0037 [doi]
PST - epublish
SO  - Endocr Relat Cancer. 2010 Oct 5;17(4):875-83. doi: 10.1677/ERC-10-0037. Print 
      2010 Dec.