PMID- 9361035
OWN - NLM
STAT- MEDLINE
DCOM- 19980318
LR  - 20190512
IS  - 0964-6906 (Print)
IS  - 0964-6906 (Linking)
VI  - 6
IP  - 13
DP  - 1997 Dec
TI  - Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung.
PG  - 2285-90
AB  - Lung carcinoids occur sporadically and rarely in association with multiple 
      endocrine neoplasia type 1 (MEN1). There are no well defined genetic 
      abnormalities known to occur in these tumors. We studied 11 sporadic lung 
      carcinoids for loss of heterozygosity (LOH) at the locus of the MEN1 gene on 
      chromosome 11q13, and for mutations of the MEN1 gene using dideoxy 
      fingerprinting. Additionally, a lung carcinoid from a MEN1 patient was studied. 
      In four of 11 (36%) sporadic tumors, both copies of the MEN1 gene were 
      inactivated. All four tumors showed the presence of a MEN1 gene mutation and loss 
      of the other allele. Observed mutations included a 1 bp insertion, a 1 bp 
      deletion, a 13 bp deletion and a single nucleotide substitution affecting a donor 
      splice site. Each mutation predicts truncation or potentially complete loss of 
      menin. The remaining seven tumors showed neither the presence of a MEN1 gene 
      mutation nor 11q13 LOH. The tumor from the MEN1 patient showed LOH at chromosome 
      11q13 and a complex germline MEN1 gene mutation. The data implicate the MEN1 gene 
      in the pathogenesis of sporadic lung carcinoids, representing the first defined 
      genetic alteration in these tumors.
FAU - Debelenko, L V
AU  - Debelenko LV
AD  - Laboratory of Pathology, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
FAU - Brambilla, E
AU  - Brambilla E
FAU - Agarwal, S K
AU  - Agarwal SK
FAU - Swalwell, J I
AU  - Swalwell JI
FAU - Kester, M B
AU  - Kester MB
FAU - Lubensky, I A
AU  - Lubensky IA
FAU - Zhuang, Z
AU  - Zhuang Z
FAU - Guru, S C
AU  - Guru SC
FAU - Manickam, P
AU  - Manickam P
FAU - Olufemi, S E
AU  - Olufemi SE
FAU - Chandrasekharappa, S C
AU  - Chandrasekharappa SC
FAU - Crabtree, J S
AU  - Crabtree JS
FAU - Kim, Y S
AU  - Kim YS
FAU - Heppner, C
AU  - Heppner C
FAU - Burns, A L
AU  - Burns AL
FAU - Spiegel, A M
AU  - Spiegel AM
FAU - Marx, S J
AU  - Marx SJ
FAU - Liotta, L A
AU  - Liotta LA
FAU - Collins, F S
AU  - Collins FS
FAU - Travis, W D
AU  - Travis WD
FAU - Emmert-Buck, M R
AU  - Emmert-Buck MR
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
RN  - 0 (DNA, Neoplasm)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adult
MH  - Carcinoid Tumor/*genetics/pathology
MH  - Cell Transformation, Neoplastic/genetics
MH  - Chromosomes, Human, Pair 11/genetics
MH  - DNA Fingerprinting
MH  - DNA, Neoplasm/genetics
MH  - *Genes, Tumor Suppressor
MH  - Humans
MH  - Loss of Heterozygosity
MH  - Lung Neoplasms/*genetics/pathology
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Neoplasm Metastasis
MH  - Neoplasm Proteins/deficiency/*genetics/physiology
MH  - *Proto-Oncogene Proteins
EDAT- 1998/03/21 00:00
MHDA- 1998/03/21 00:01
CRDT- 1998/03/21 00:00
PHST- 1998/03/21 00:00 [pubmed]
PHST- 1998/03/21 00:01 [medline]
PHST- 1998/03/21 00:00 [entrez]
AID - dda285 [pii]
AID - 10.1093/hmg/6.13.2285 [doi]
PST - ppublish
SO  - Hum Mol Genet. 1997 Dec;6(13):2285-90. doi: 10.1093/hmg/6.13.2285.