caa a22 4500 445331186 CHVBK 20180317142738.0 cr unu---uuuuu 170323e20110601xx s 000 0 eng 10.1007/s10689-010-9412-z doi (NATIONALLICENCE)springer-10.1007/s10689-010-9412-z A new frameshift MEN1 gene mutation associated with familial malignant insulinomas [Elektronische Daten] [Shirin Hasani-Ranjbar, Mahsa Amoli, Azadeh Ebrahim-Habibi, Mohammad Gozashti, Nahid Khalili, Forugh Sayyahpour, Jila Hafeziyeh, Akbar Soltani, Bagher Larijani] 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. Springer Science+Business Media B.V., 2010 Familial insulinoma nationallicence MEN1 nationallicence Mutation nationallicence Malignant insulinoma nationallicence Hasani-Ranjbar Shirin Endocrinology and Metabolism Research Centre, Tehran University of Medical Sciences, 5th Floor, Shariati Hospital, North Kargar Ave, 14114, Tehran, Iran aut Amoli Mahsa Endocrinology and Metabolism Research Centre, Tehran University of Medical Sciences, 5th Floor, Shariati Hospital, North Kargar Ave, 14114, Tehran, Iran aut Ebrahim-Habibi Azadeh Endocrinology and Metabolism Research Centre, Tehran University of Medical Sciences, 5th Floor, Shariati Hospital, North Kargar Ave, 14114, Tehran, Iran aut Gozashti Mohammad Endocrine Ward, Kerman University of Medical Sciences, Tehran, Iran aut Khalili Nahid Endocrine Ward, Baghiatalla University, Tehran, Iran aut Sayyahpour Forugh Endocrinology and Metabolism Research Centre, Tehran University of Medical Sciences, 5th Floor, Shariati Hospital, North Kargar Ave, 14114, Tehran, Iran aut Hafeziyeh Jila Endocrinology and Metabolism Research Centre, Tehran University of Medical Sciences, 5th Floor, Shariati Hospital, North Kargar Ave, 14114, Tehran, Iran aut Soltani Akbar Endocrinology and Metabolism Research Centre, Tehran University of Medical Sciences, 5th Floor, Shariati Hospital, North Kargar Ave, 14114, Tehran, Iran aut Larijani Bagher Endocrinology and Metabolism Research Centre, Tehran University of Medical Sciences, 5th Floor, Shariati Hospital, North Kargar Ave, 14114, Tehran, Iran aut Familial Cancer Springer Netherlands 10/2(2011-06-01), 343-348 1389-9600 10:2<343 2011 10 10689 https://doi.org/10.1007/s10689-010-9412-z text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10689-010-9412-z text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Hasani-Ranjbar Shirin Endocrinology and Metabolism Research Centre, Tehran University of Medical Sciences, 5th Floor, Shariati Hospital, North Kargar Ave, 14114, Tehran, Iran aut NATIONALLICENCE 700 1- Amoli Mahsa Endocrinology and Metabolism Research Centre, Tehran University of Medical Sciences, 5th Floor, Shariati Hospital, North Kargar Ave, 14114, Tehran, Iran aut NATIONALLICENCE 700 1- Ebrahim-Habibi Azadeh Endocrinology and Metabolism Research Centre, Tehran University of Medical Sciences, 5th Floor, Shariati Hospital, North Kargar Ave, 14114, Tehran, Iran aut NATIONALLICENCE 700 1- Gozashti Mohammad Endocrine Ward, Kerman University of Medical Sciences, Tehran, Iran aut NATIONALLICENCE 700 1- Khalili Nahid Endocrine Ward, Baghiatalla University, Tehran, Iran aut NATIONALLICENCE 700 1- Sayyahpour Forugh Endocrinology and Metabolism Research Centre, Tehran University of Medical Sciences, 5th Floor, Shariati Hospital, North Kargar Ave, 14114, Tehran, Iran aut NATIONALLICENCE 700 1- Hafeziyeh Jila Endocrinology and Metabolism Research Centre, Tehran University of Medical Sciences, 5th Floor, Shariati Hospital, North Kargar Ave, 14114, Tehran, Iran aut NATIONALLICENCE 700 1- Soltani Akbar Endocrinology and Metabolism Research Centre, Tehran University of Medical Sciences, 5th Floor, Shariati Hospital, North Kargar Ave, 14114, Tehran, Iran aut NATIONALLICENCE 700 1- Larijani Bagher Endocrinology and Metabolism Research Centre, Tehran University of Medical Sciences, 5th Floor, Shariati Hospital, North Kargar Ave, 14114, Tehran, Iran aut NATIONALLICENCE 773 0- Familial Cancer Springer Netherlands 10/2(2011-06-01), 343-348 1389-9600 10:2<343 2011 10 10689 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer