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Lack of MEN1 gene mutations in 27 sporadic insulinomas.
Eur J Clin Invest. 2000 Apr; 30(4):325-9.EJ

Abstract

BACKGROUND

Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant familial cancer syndrome characterized by tumours of the parathyroids, anterior pituitary gland and endocrine pancreas. Since the cloning of the MEN1 gene (encoding menin) on chromosome 11q13 by Chandrasekharappa et al. in 1997, it has become possible to identify mutations that are responsible. We examined whether MEN1 gene mutations are present in sporadic insulinomas, a rare sporadic tumour that is seen more frequently in patients with the MEN 1 syndrome.

PATIENTS AND METHODS

We sequenced the coding part of the MEN1 gene (exons 2-10) in tumour tissue of 27 patients suffering from an insulinoma (24 benign, three malignant). To validate our methods we also examined tumour tissue from five patients with primary hyperparathyroidism (HPT) at a younger age and/or multiple gland disease, with increased risk of MEN 1.

RESULTS

We found no mutations in the nine coding exons of the MEN1 gene in the insulinoma tissues. We could confirm three benign polymorphisms (S145S, R171Q, D418D) reported previously. In the control patients we found two new point mutations (one mis-sense, one non-sense mutation) and one deletion.

CONCLUSION

Mutations of the MEN1 gene do not play an important role in the pathogenesis of sporadic insulinomas. Therefore genetic screening is not cost effective in sporadic insulinoma patients without other indicators of MEN 1. Patients with primary HPT at a younger age and/or multiple gland disease should be screened for MEN1 gene mutations.

Authors+Show Affiliations

Heinrich-Heine-University, Düsseldorf; Institute for Hormone and Fertility Research at the University of Hamburg, Hamburg, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

10759881

Citation

Cupisti, K, et al. "Lack of MEN1 Gene Mutations in 27 Sporadic Insulinomas." European Journal of Clinical Investigation, vol. 30, no. 4, 2000, pp. 325-9.
Cupisti K, Höppner W, Dotzenrath C, et al. Lack of MEN1 gene mutations in 27 sporadic insulinomas. Eur J Clin Invest. 2000;30(4):325-9.
Cupisti, K., Höppner, W., Dotzenrath, C., Simon, D., Berndt, I., Röher, H. D., & Goretzki, P. E. (2000). Lack of MEN1 gene mutations in 27 sporadic insulinomas. European Journal of Clinical Investigation, 30(4), 325-9.
Cupisti K, et al. Lack of MEN1 Gene Mutations in 27 Sporadic Insulinomas. Eur J Clin Invest. 2000;30(4):325-9. PubMed PMID: 10759881.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Lack of MEN1 gene mutations in 27 sporadic insulinomas. AU - Cupisti,K, AU - Höppner,W, AU - Dotzenrath,C, AU - Simon,D, AU - Berndt,I, AU - Röher,H D, AU - Goretzki,P E, PY - 2000/4/12/pubmed PY - 2000/6/3/medline PY - 2000/4/12/entrez SP - 325 EP - 9 JF - European journal of clinical investigation JO - Eur J Clin Invest VL - 30 IS - 4 N2 - BACKGROUND: Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant familial cancer syndrome characterized by tumours of the parathyroids, anterior pituitary gland and endocrine pancreas. Since the cloning of the MEN1 gene (encoding menin) on chromosome 11q13 by Chandrasekharappa et al. in 1997, it has become possible to identify mutations that are responsible. We examined whether MEN1 gene mutations are present in sporadic insulinomas, a rare sporadic tumour that is seen more frequently in patients with the MEN 1 syndrome. PATIENTS AND METHODS: We sequenced the coding part of the MEN1 gene (exons 2-10) in tumour tissue of 27 patients suffering from an insulinoma (24 benign, three malignant). To validate our methods we also examined tumour tissue from five patients with primary hyperparathyroidism (HPT) at a younger age and/or multiple gland disease, with increased risk of MEN 1. RESULTS: We found no mutations in the nine coding exons of the MEN1 gene in the insulinoma tissues. We could confirm three benign polymorphisms (S145S, R171Q, D418D) reported previously. In the control patients we found two new point mutations (one mis-sense, one non-sense mutation) and one deletion. CONCLUSION: Mutations of the MEN1 gene do not play an important role in the pathogenesis of sporadic insulinomas. Therefore genetic screening is not cost effective in sporadic insulinoma patients without other indicators of MEN 1. Patients with primary HPT at a younger age and/or multiple gland disease should be screened for MEN1 gene mutations. SN - 0014-2972 UR - https://www.unboundmedicine.com/medline/citation/10759881/Lack_of_MEN1_gene_mutations_in_27_sporadic_insulinomas_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0014-2972&date=2000&volume=30&issue=4&spage=325 DB - PRIME DP - Unbound Medicine ER -