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Allelic loss in parathyroid tumors from individuals homozygous for multiple endocrine neoplasia type 1.
J Clin Endocrinol Metab. 1997 Jul; 82(7):2278-82.JC

Abstract

Homozygosity for the multiple endocrine neoplasia type 1 (MEN1) gene mutation was described in two of three affected siblings of a kindred in which both parents and the third daughter were heterozygotes. Surprisingly, in the two homozygotes, the disease history did not differ from the one of the heterozygotes. In the attempt to unravel genetic differences in parathyroid tumorigenesis between homozygotes and heterozygotes, restriction fragment length polymorphism analysis and microsatellite PCR analysis for loss of heterozygosity (LOH) at the MEN1 gene region on chromosome 11q13 was performed in parathyroid tissues removed at surgery from the mother, her heterozygous sister, and the three siblings. Allelic losses were evidenced in the larger glands of each patient, with a similar pattern of chromosome 11q12-13 losses. The somatic mutation consisted of a large lose of genetic material from chromosome 11. No gross differences exist in the 11q12-13 LOH observed between homozygous and heterozygous carriers. Interestingly, one of the parathyroid tumors from one heterozygote exhibited region of skipped LOH at the 11q12-13 region. The region in the depth of the critical interval retained heterozygosity, whereas those flanking it shared LOH. These findings indicate that inactivation of both copies of the MEN1 gene are not sufficient for parathyroid tumor development in MEN 1 patients and that tumor suppressor genes, other than the MEN1 gene on chromosome 11 or on other chromosomes, can be involved in the pathogenesis of parathyroid tumorigenesis in MEN 1 syndrome.

Authors+Show Affiliations

Endocrinology Unit, University of Florence, Italy.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

9215307

Citation

Falchetti, A, et al. "Allelic Loss in Parathyroid Tumors From Individuals Homozygous for Multiple Endocrine Neoplasia Type 1." The Journal of Clinical Endocrinology and Metabolism, vol. 82, no. 7, 1997, pp. 2278-82.
Falchetti A, Morelli A, Amorosi A, et al. Allelic loss in parathyroid tumors from individuals homozygous for multiple endocrine neoplasia type 1. J Clin Endocrinol Metab. 1997;82(7):2278-82.
Falchetti, A., Morelli, A., Amorosi, A., Tonelli, F., Fabiani, S., Martineti, V., Castello, R., Furlani, L., & Brandi, M. L. (1997). Allelic loss in parathyroid tumors from individuals homozygous for multiple endocrine neoplasia type 1. The Journal of Clinical Endocrinology and Metabolism, 82(7), 2278-82.
Falchetti A, et al. Allelic Loss in Parathyroid Tumors From Individuals Homozygous for Multiple Endocrine Neoplasia Type 1. J Clin Endocrinol Metab. 1997;82(7):2278-82. PubMed PMID: 9215307.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Allelic loss in parathyroid tumors from individuals homozygous for multiple endocrine neoplasia type 1. AU - Falchetti,A, AU - Morelli,A, AU - Amorosi,A, AU - Tonelli,F, AU - Fabiani,S, AU - Martineti,V, AU - Castello,R, AU - Furlani,L, AU - Brandi,M L, PY - 1997/7/1/pubmed PY - 1997/7/1/medline PY - 1997/7/1/entrez SP - 2278 EP - 82 JF - The Journal of clinical endocrinology and metabolism JO - J Clin Endocrinol Metab VL - 82 IS - 7 N2 - Homozygosity for the multiple endocrine neoplasia type 1 (MEN1) gene mutation was described in two of three affected siblings of a kindred in which both parents and the third daughter were heterozygotes. Surprisingly, in the two homozygotes, the disease history did not differ from the one of the heterozygotes. In the attempt to unravel genetic differences in parathyroid tumorigenesis between homozygotes and heterozygotes, restriction fragment length polymorphism analysis and microsatellite PCR analysis for loss of heterozygosity (LOH) at the MEN1 gene region on chromosome 11q13 was performed in parathyroid tissues removed at surgery from the mother, her heterozygous sister, and the three siblings. Allelic losses were evidenced in the larger glands of each patient, with a similar pattern of chromosome 11q12-13 losses. The somatic mutation consisted of a large lose of genetic material from chromosome 11. No gross differences exist in the 11q12-13 LOH observed between homozygous and heterozygous carriers. Interestingly, one of the parathyroid tumors from one heterozygote exhibited region of skipped LOH at the 11q12-13 region. The region in the depth of the critical interval retained heterozygosity, whereas those flanking it shared LOH. These findings indicate that inactivation of both copies of the MEN1 gene are not sufficient for parathyroid tumor development in MEN 1 patients and that tumor suppressor genes, other than the MEN1 gene on chromosome 11 or on other chromosomes, can be involved in the pathogenesis of parathyroid tumorigenesis in MEN 1 syndrome. SN - 0021-972X UR - https://www.unboundmedicine.com/medline/citation/9215307/Allelic_loss_in_parathyroid_tumors_from_individuals_homozygous_for_multiple_endocrine_neoplasia_type_1_ L2 - https://academic.oup.com/jcem/article-lookup/doi/10.1210/jcem.82.7.4042 DB - PRIME DP - Unbound Medicine ER -