Tags

Type your tag names separated by a space and hit enter

Somatic mutations of multiple endocrine neoplasia type 1 gene in the sporadic endocrine tumors.
Lab Invest. 1998 Apr; 78(4):471-5.LI

Abstract

Endocrine tumors of the parathyroid and pancreas are encountered either as sporadic type or as part of multiple endocrine neoplasia type 1 (MEN 1). A high frequency of the loss of heterozygosity (LOH) has been observed in tumors of the sporadic type in the locus of the MEN 1 gene, which has recently been cloned and designated the menin gene. It would be of great interest to determine whether somatic mutations in the menin gene are responsible for the sporadic endocrine tumors. For this purpose, we have investigated the menin gene mutations in 21 sporadic parathyroid adenomas, 2 parathyroid carcinomas, 4 sporadic insulinomas, and 1 malignant VIP (vasoactive intestinal polypeptide)oma with WDHA (watery diarrhea, hypokalemia, and achlorhydria) syndrome, using PCR-single strand conformation polymorphism analysis and DNA sequencing. In none of these cases did the patient have a family history or other possible association with MEN 1. We have discovered somatic point mutations in two parathyroid adenomas (A340T and A541T), in one insulinoma (T429K), and in the malignant VIPoma (W198X). In addition, we have found two polymorphisms (D418D and V367V) in two parathyroid carcinomas and two parathyroid adenomas. Of these mutations and polymorphisms, three (A340T, T429K, and V367V) are first reported here, in the present article. Our results indicate that somatic mutations of the menin gene are responsible for a proportion of the sporadic parathyroid adenomas and pancreatic islet cell tumors.

Authors+Show Affiliations

Department of Pathology, Wakayama Medical College, Wakayama City, Japan.No 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

9564891

Citation

Shan, L, et al. "Somatic Mutations of Multiple Endocrine Neoplasia Type 1 Gene in the Sporadic Endocrine Tumors." Laboratory Investigation; a Journal of Technical Methods and Pathology, vol. 78, no. 4, 1998, pp. 471-5.
Shan L, Nakamura Y, Nakamura M, et al. Somatic mutations of multiple endocrine neoplasia type 1 gene in the sporadic endocrine tumors. Lab Invest. 1998;78(4):471-5.
Shan, L., Nakamura, Y., Nakamura, M., Yokoi, T., Tsujimoto, M., Arima, R., Kameya, T., & Kakudo, K. (1998). Somatic mutations of multiple endocrine neoplasia type 1 gene in the sporadic endocrine tumors. Laboratory Investigation; a Journal of Technical Methods and Pathology, 78(4), 471-5.
Shan L, et al. Somatic Mutations of Multiple Endocrine Neoplasia Type 1 Gene in the Sporadic Endocrine Tumors. Lab Invest. 1998;78(4):471-5. PubMed PMID: 9564891.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Somatic mutations of multiple endocrine neoplasia type 1 gene in the sporadic endocrine tumors. AU - Shan,L, AU - Nakamura,Y, AU - Nakamura,M, AU - Yokoi,T, AU - Tsujimoto,M, AU - Arima,R, AU - Kameya,T, AU - Kakudo,K, PY - 1998/5/9/pubmed PY - 1998/5/9/medline PY - 1998/5/9/entrez SP - 471 EP - 5 JF - Laboratory investigation; a journal of technical methods and pathology JO - Lab Invest VL - 78 IS - 4 N2 - Endocrine tumors of the parathyroid and pancreas are encountered either as sporadic type or as part of multiple endocrine neoplasia type 1 (MEN 1). A high frequency of the loss of heterozygosity (LOH) has been observed in tumors of the sporadic type in the locus of the MEN 1 gene, which has recently been cloned and designated the menin gene. It would be of great interest to determine whether somatic mutations in the menin gene are responsible for the sporadic endocrine tumors. For this purpose, we have investigated the menin gene mutations in 21 sporadic parathyroid adenomas, 2 parathyroid carcinomas, 4 sporadic insulinomas, and 1 malignant VIP (vasoactive intestinal polypeptide)oma with WDHA (watery diarrhea, hypokalemia, and achlorhydria) syndrome, using PCR-single strand conformation polymorphism analysis and DNA sequencing. In none of these cases did the patient have a family history or other possible association with MEN 1. We have discovered somatic point mutations in two parathyroid adenomas (A340T and A541T), in one insulinoma (T429K), and in the malignant VIPoma (W198X). In addition, we have found two polymorphisms (D418D and V367V) in two parathyroid carcinomas and two parathyroid adenomas. Of these mutations and polymorphisms, three (A340T, T429K, and V367V) are first reported here, in the present article. Our results indicate that somatic mutations of the menin gene are responsible for a proportion of the sporadic parathyroid adenomas and pancreatic islet cell tumors. SN - 0023-6837 UR - https://www.unboundmedicine.com/medline/citation/9564891/Somatic_mutations_of_multiple_endocrine_neoplasia_type_1_gene_in_the_sporadic_endocrine_tumors_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=9564891.ui DB - PRIME DP - Unbound Medicine ER -