PMID- 11550286
OWN - NLM
STAT- MEDLINE
DCOM- 20011204
LR  - 20191025
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 32
IP  - 2
DP  - 2001 Oct
TI  - Role of disease-causing genes in sporadic pancreatic endocrine tumors: MEN1 and 
      VHL.
PG  - 177-81
AB  - Pancreatic endocrine tumors (PETs) occur in association with multiple endocrine 
      neoplasia type 1 (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, MEN1 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.
CI  - Copyright 2001 Wiley-Liss, Inc.
FAU - Moore, P S
AU  - Moore PS
AD  - Department of Pathology, Universita di Verona, Strada le Grazie 8, I-37134 
      Verona, Italy.
FAU - Missiaglia, E
AU  - Missiaglia E
FAU - Antonello, D
AU  - Antonello D
FAU - Zamo, A
AU  - Zamo A
FAU - Zamboni, G
AU  - Zamboni G
FAU - Corleto, V
AU  - Corleto V
FAU - Falconi, M
AU  - Falconi M
FAU - Scarpa, A
AU  - Scarpa A
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - 0 (Tumor Suppressor Proteins)
RN  - EC 2.3.2.27 (Ubiquitin-Protein Ligases)
RN  - EC 2.3.2.27 (Von Hippel-Lindau Tumor Suppressor Protein)
RN  - EC 6.- (Ligases)
RN  - EC 6.3.2.- (VHL protein, human)
SB  - IM
MH  - Genes, Tumor Suppressor/genetics/*physiology
MH  - Humans
MH  - Ligases/*genetics/physiology
MH  - Multiple Endocrine Neoplasia Type 1/etiology/*genetics
MH  - Pancreatic Neoplasms/etiology/*genetics
MH  - *Tumor Suppressor Proteins
MH  - *Ubiquitin-Protein Ligases
MH  - Von Hippel-Lindau Tumor Suppressor Protein
MH  - von Hippel-Lindau Disease/etiology/*genetics
EDAT- 2001/09/11 10:00
MHDA- 2002/01/05 10:01
CRDT- 2001/09/11 10:00
PHST- 2001/09/11 10:00 [pubmed]
PHST- 2002/01/05 10:01 [medline]
PHST- 2001/09/11 10:00 [entrez]
AID - 10.1002/gcc.1180 [pii]
AID - 10.1002/gcc.1180 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2001 Oct;32(2):177-81. doi: 10.1002/gcc.1180.