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A new frameshift MEN1 gene mutation associated with familial malignant insulinomas.
Fam Cancer. 2011 Jun; 10(2):343-8.FC

Abstract

MEN-1 is an autosomal dominant familial cancer syndrome characterized by involvement of parathyroid, enteropancreatic endocrine tissues and the anterior pituitary gland. Malignant insulinomas are rare, and therefore, there are few data regarding their clinical presentation and long-term prognosis. In this report we present a large family with malignant insulinoma and hyperparathyroidism with MEN-1 gene mutation analysis. A large family (three generations) with several members affected were evaluated for clinical and biochemical characteristic of MEN-1 syndrome. Genetic analysis for MEN1 gene was carried out in all family members using PCR amplification of coding regions followed by direct sequencing. In three brothers that presented with hypoglycemia, insulinoma was confirmed and two were malignant according to pathology and surgery report. Two of them had hyperparathyroidism too. Mutation screening revealed the presence of a two nucleotide deletion in the exon 2 (c199_200del2). In the current study, the deletion happens early in the sequence, and obviously results in a non-functional gene product. However, it will be helpful to further examine somatic mutations and other genetic markers for a more precise study of genotype-phenotype correlation.

Authors+Show Affiliations

Endocrinology and Metabolism Research Centre, Tehran University of Medical Sciences, 5th Floor, Shariati Hospital, North Kargar Ave, 14114 Tehran, Iran. shirinhasanir@yahoo.comNo 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

Language

eng

PubMed ID

21184284

Citation

Hasani-Ranjbar, Shirin, et al. "A New Frameshift MEN1 Gene Mutation Associated With Familial Malignant Insulinomas." Familial Cancer, vol. 10, no. 2, 2011, pp. 343-8.
Hasani-Ranjbar S, Amoli MM, Ebrahim-Habibi A, et al. A new frameshift MEN1 gene mutation associated with familial malignant insulinomas. Fam Cancer. 2011;10(2):343-8.
Hasani-Ranjbar, S., Amoli, M. M., Ebrahim-Habibi, A., Gozashti, M. H., Khalili, N., Sayyahpour, F. A., Hafeziyeh, J., Soltani, A., & Larijani, B. (2011). A new frameshift MEN1 gene mutation associated with familial malignant insulinomas. Familial Cancer, 10(2), 343-8. https://doi.org/10.1007/s10689-010-9412-z
Hasani-Ranjbar S, et al. A New Frameshift MEN1 Gene Mutation Associated With Familial Malignant Insulinomas. Fam Cancer. 2011;10(2):343-8. PubMed PMID: 21184284.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A new frameshift MEN1 gene mutation associated with familial malignant insulinomas. AU - Hasani-Ranjbar,Shirin, AU - Amoli,Mahsa M, AU - Ebrahim-Habibi,Azadeh, AU - Gozashti,Mohammad Hossein, AU - Khalili,Nahid, AU - Sayyahpour,Forugh A, AU - Hafeziyeh,Jila, AU - Soltani,Akbar, AU - Larijani,Bagher, PY - 2010/12/25/entrez PY - 2010/12/25/pubmed PY - 2011/10/4/medline SP - 343 EP - 8 JF - Familial cancer JO - Fam Cancer VL - 10 IS - 2 N2 - MEN-1 is an autosomal dominant familial cancer syndrome characterized by involvement of parathyroid, enteropancreatic endocrine tissues and the anterior pituitary gland. Malignant insulinomas are rare, and therefore, there are few data regarding their clinical presentation and long-term prognosis. In this report we present a large family with malignant insulinoma and hyperparathyroidism with MEN-1 gene mutation analysis. A large family (three generations) with several members affected were evaluated for clinical and biochemical characteristic of MEN-1 syndrome. Genetic analysis for MEN1 gene was carried out in all family members using PCR amplification of coding regions followed by direct sequencing. In three brothers that presented with hypoglycemia, insulinoma was confirmed and two were malignant according to pathology and surgery report. Two of them had hyperparathyroidism too. Mutation screening revealed the presence of a two nucleotide deletion in the exon 2 (c199_200del2). In the current study, the deletion happens early in the sequence, and obviously results in a non-functional gene product. However, it will be helpful to further examine somatic mutations and other genetic markers for a more precise study of genotype-phenotype correlation. SN - 1573-7292 UR - https://www.unboundmedicine.com/medline/citation/21184284/A_new_frameshift_MEN1_gene_mutation_associated_with_familial_malignant_insulinomas_ L2 - https://doi.org/10.1007/s10689-010-9412-z DB - PRIME DP - Unbound Medicine ER -