PMID- 10918183
OWN - NLM
STAT- MEDLINE
DCOM- 20000818
LR  - 20190708
IS  - 0020-7136 (Print)
IS  - 0020-7136 (Linking)
VI  - 87
IP  - 4
DP  - 2000 Aug 15
TI  - Malignant melanoma in patients with multiple endocrine neoplasia type 1 and 
      involvement of the MEN1 gene in sporadic melanoma.
PG  - 463-7
AB  - Multiple endocrine neoplasia type 1 (MEN 1) is a familial cancer syndrome 
      associated primarily with endocrine tumors of the parathyroids, enteropancreas 
      and anterior pituitary. However, tumors of mesenchymal origin such as 
      angiofibroma and collagenoma of the skin have also been associated with the 
      syndrome. This highlights the possibility of an association between MEN 1 and 
      some other types of tumors. Here we report 7 cases of primary malignant melanoma 
      occurring in 7 MEN 1 families, all patients exhibiting classic features of MEN 1. 
      Based on these findings and the previous implication of multiple melanoma tumor 
      suppressor(s) in 11q, including the MEN1 region, we have investigated the 
      involvement of the MEN1 gene in melanoma tumorigenesis. Mutation analysis was 
      performed on a panel of 39 sporadic metastatic melanomas, 13 melanoma cell lines 
      and 20 melanoma families without CDKN2A or CDK4 germline mutations. In addition, 
      19 sporadic metastatic tumors were screened for loss of heterozygosity (LOH) in 
      11q13. LOH was detected in 6 tumors (32%), and in 4 of the tumors the pattern of 
      LOH suggested that the deletion included the MEN1 gene locus. A novel somatic 
      nonsense mutation in exon 7 (Q349X) was identified in 1 sporadic tumor which also 
      showed loss of the wild-type allele. We conclude that the MEN1 gene plays a role 
      in the tumorigenesis of a small subgroup of melanoma.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Nord, B
AU  - Nord B
AD  - Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden. 
      brita.nord@cmm.ki.se
FAU - Platz, A
AU  - Platz A
FAU - Smoczynski, K
AU  - Smoczynski K
FAU - Kytola, S
AU  - Kytola S
FAU - Robertson, G
AU  - Robertson G
FAU - Calender, A
AU  - Calender A
FAU - Murat, A
AU  - Murat A
FAU - Weintraub, D
AU  - Weintraub D
FAU - Burgess, J
AU  - Burgess J
FAU - Edwards, M
AU  - Edwards M
FAU - Skogseid, B
AU  - Skogseid B
FAU - Owen, D
AU  - Owen D
FAU - Lassam, N
AU  - Lassam N
FAU - Hogg, D
AU  - Hogg D
FAU - Larsson, C
AU  - Larsson C
FAU - Teh, B T
AU  - Teh BT
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Int J Cancer
JT  - International journal of cancer
JID - 0042124
SB  - IM
MH  - Adult
MH  - Aged
MH  - Chromosomes, Human, Pair 11/genetics
MH  - DNA Mutational Analysis
MH  - Female
MH  - Humans
MH  - Karyotyping
MH  - Loss of Heterozygosity
MH  - Male
MH  - Melanoma/*genetics/pathology
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Mutation
MH  - Skin Neoplasms/*genetics/pathology
MH  - Tumor Cells, Cultured
EDAT- 2000/08/05 11:00
MHDA- 2000/08/29 11:01
CRDT- 2000/08/05 11:00
PHST- 2000/08/05 11:00 [pubmed]
PHST- 2000/08/29 11:01 [medline]
PHST- 2000/08/05 11:00 [entrez]
AID - 10.1002/1097-0215(20000815)87:4<463::AID-IJC1>3.0.CO;2-8 [pii]
AID - 10.1002/1097-0215(20000815)87:4<463::aid-ijc1>3.0.co;2-8 [doi]
PST - ppublish
SO  - Int J Cancer. 2000 Aug 15;87(4):463-7. doi: 
      10.1002/1097-0215(20000815)87:4<463::aid-ijc1>3.0.co;2-8.