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Identification of somatic mutations of the MEN1 gene in sporadic endocrine tumours.
Br J Cancer. 2000 Oct; 83(8):1003-8.BJ

Abstract

Endocrine tumours of the pancreas, anterior pituitary or parathyroids arise either sporadically in the general population, or as a part of inherited syndromes such as multiple endocrine neoplasia type 1 (MEN 1). The mechanisms responsible for the development of sporadic endocrine lesions are not well understood, although loss of heterozygosity (LOH) of the MEN1 locus on chromosome 11q13 and somatic mutation of the MEN1 gene have been frequently associated with the development of MEN 1-type sporadic endocrine lesions. To further investigate the role of the MEN1 gene in sporadic endocrine tumorigenesis, we analysed DNA from 14 primary parathyroid lesions, 8 anterior pituitary tumours and 3 pancreatic tumours for the presence of somatic MEN1 gene mutations and LOH of seven microsatellite markers flanking the MEN1 locus. In addition, we similarly analysed 8 secondary parathyroid lesions which arose in patients with chronic renal failure. None of the patients studied had a family history of MEN 1. Three primary parathyroid lesions and one pancreatic tumour (glucagonoma) were found to have lost one allele at the MEN1 locus. Somatic mutations were identified by SSCP and sequence analysis in one of these parathyroid lesions (P320L) and in the glucagonoma (E179V). These results support previous findings that inactivation of the MEN1 tumour suppressor gene contributes to the development of sporadic MEN 1-type endocrine lesions but is not associated with the development of parathyroid hyperplasia seen in some renal failure patients.

Authors+Show Affiliations

Queensland Cancer Fund Research Unit, Joint Experimental Oncology Programme of the Queensland Institute of Medical Research and the University of Queensland, Herston, QLD 4029, Australia.No 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

10993646

Citation

Bergman, L, et al. "Identification of Somatic Mutations of the MEN1 Gene in Sporadic Endocrine Tumours." British Journal of Cancer, vol. 83, no. 8, 2000, pp. 1003-8.
Bergman L, Boothroyd C, Palmer J, et al. Identification of somatic mutations of the MEN1 gene in sporadic endocrine tumours. Br J Cancer. 2000;83(8):1003-8.
Bergman, L., Boothroyd, C., Palmer, J., Grimmond, S., Walters, M., Teh, B., Shepherd, J., Hartley, L., & Hayward, N. (2000). Identification of somatic mutations of the MEN1 gene in sporadic endocrine tumours. British Journal of Cancer, 83(8), 1003-8.
Bergman L, et al. Identification of Somatic Mutations of the MEN1 Gene in Sporadic Endocrine Tumours. Br J Cancer. 2000;83(8):1003-8. PubMed PMID: 10993646.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Identification of somatic mutations of the MEN1 gene in sporadic endocrine tumours. AU - Bergman,L, AU - Boothroyd,C, AU - Palmer,J, AU - Grimmond,S, AU - Walters,M, AU - Teh,B, AU - Shepherd,J, AU - Hartley,L, AU - Hayward,N, PY - 2000/9/20/pubmed PY - 2001/2/28/medline PY - 2000/9/20/entrez SP - 1003 EP - 8 JF - British journal of cancer JO - Br J Cancer VL - 83 IS - 8 N2 - Endocrine tumours of the pancreas, anterior pituitary or parathyroids arise either sporadically in the general population, or as a part of inherited syndromes such as multiple endocrine neoplasia type 1 (MEN 1). The mechanisms responsible for the development of sporadic endocrine lesions are not well understood, although loss of heterozygosity (LOH) of the MEN1 locus on chromosome 11q13 and somatic mutation of the MEN1 gene have been frequently associated with the development of MEN 1-type sporadic endocrine lesions. To further investigate the role of the MEN1 gene in sporadic endocrine tumorigenesis, we analysed DNA from 14 primary parathyroid lesions, 8 anterior pituitary tumours and 3 pancreatic tumours for the presence of somatic MEN1 gene mutations and LOH of seven microsatellite markers flanking the MEN1 locus. In addition, we similarly analysed 8 secondary parathyroid lesions which arose in patients with chronic renal failure. None of the patients studied had a family history of MEN 1. Three primary parathyroid lesions and one pancreatic tumour (glucagonoma) were found to have lost one allele at the MEN1 locus. Somatic mutations were identified by SSCP and sequence analysis in one of these parathyroid lesions (P320L) and in the glucagonoma (E179V). These results support previous findings that inactivation of the MEN1 tumour suppressor gene contributes to the development of sporadic MEN 1-type endocrine lesions but is not associated with the development of parathyroid hyperplasia seen in some renal failure patients. SN - 0007-0920 UR - https://www.unboundmedicine.com/medline/citation/10993646/Identification_of_somatic_mutations_of_the_MEN1_gene_in_sporadic_endocrine_tumours_ L2 - https://doi.org/10.1054/bjoc.2000.1385 DB - PRIME DP - Unbound Medicine ER -