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Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung.
Hum Mol Genet. 1997 Dec; 6(13):2285-90.HM

Abstract

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.

Authors+Show Affiliations

Laboratory of Pathology, National Cancer Institute, NIH, Bethesda, MD 20892, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

9361035

Citation

Debelenko, L V., et al. "Identification of MEN1 Gene Mutations in Sporadic Carcinoid Tumors of the Lung." Human Molecular Genetics, vol. 6, no. 13, 1997, pp. 2285-90.
Debelenko LV, Brambilla E, Agarwal SK, et al. Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung. Hum Mol Genet. 1997;6(13):2285-90.
Debelenko, L. V., Brambilla, E., Agarwal, S. K., Swalwell, J. I., Kester, M. B., Lubensky, I. A., Zhuang, Z., Guru, S. C., Manickam, P., Olufemi, S. E., Chandrasekharappa, S. C., Crabtree, J. S., Kim, Y. S., Heppner, C., Burns, A. L., Spiegel, A. M., Marx, S. J., Liotta, L. A., Collins, F. S., ... Emmert-Buck, M. R. (1997). Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung. Human Molecular Genetics, 6(13), 2285-90.
Debelenko LV, et al. Identification of MEN1 Gene Mutations in Sporadic Carcinoid Tumors of the Lung. Hum Mol Genet. 1997;6(13):2285-90. PubMed PMID: 9361035.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung. AU - Debelenko,L V, AU - Brambilla,E, AU - Agarwal,S K, AU - Swalwell,J I, AU - Kester,M B, AU - Lubensky,I A, AU - Zhuang,Z, AU - Guru,S C, AU - Manickam,P, AU - Olufemi,S E, AU - Chandrasekharappa,S C, AU - Crabtree,J S, AU - Kim,Y S, AU - Heppner,C, AU - Burns,A L, AU - Spiegel,A M, AU - Marx,S J, AU - Liotta,L A, AU - Collins,F S, AU - Travis,W D, AU - Emmert-Buck,M R, PY - 1998/3/21/pubmed PY - 1998/3/21/medline PY - 1998/3/21/entrez SP - 2285 EP - 90 JF - Human molecular genetics JO - Hum Mol Genet VL - 6 IS - 13 N2 - 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. SN - 0964-6906 UR - https://www.unboundmedicine.com/medline/citation/9361035/Identification_of_MEN1_gene_mutations_in_sporadic_carcinoid_tumors_of_the_lung_ L2 - https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/6.13.2285 DB - PRIME DP - Unbound Medicine ER -