Variable regions of chromosome 11 loss in different pathological tissues of a patient with the multiple endocrine neoplasia type I syndrome
| Autor: | G. Kloppel, R. Abs, F. R. Heller, E. Reyniers, Michel Meurisse, K. De Boulle, P. J. Willems, Albert Beckers, Achille Stevenaert |
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| Rok vydání: | 1994 |
| Předmět: |
Heterozygote
endocrine system medicine.medical_specialty Pathology endocrine system diseases Genetic Linkage Endocrinology Diabetes and Metabolism Clinical Biochemistry Biology Biochemistry Loss of heterozygosity Endocrinology Internal medicine Multiple Endocrine Neoplasia Type 1 medicine Humans Endocrine system Pituitary Neoplasms MEN1 Multiple endocrine neoplasia Insulinoma Prolactinoma Neuroendocrine cell Chromosomes Human Pair 11 Biochemistry (medical) DNA Neoplasm Middle Aged Hyperplasia medicine.disease Neuroendocrine Tumors Parathyroid Neoplasms medicine.anatomical_structure Calcium Female Polymorphism Restriction Fragment Length |
| Zdroj: | The Journal of Clinical Endocrinology & Metabolism. 79:1498-1502 |
| ISSN: | 1945-7197 0021-972X |
| DOI: | 10.1210/jcem.79.5.7962349 |
| Popis: | Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited disorder characterized by nodular proliferation of the parathyroid glands and tumors of the anterior pituitary gland, the endocrine pancreas, and the neuroendocrine cell system of the gut. Loss of the putative tumor suppressor effect of the MEN1 gene is probably responsible for the development of MEN1-associated tumors. We report here a genetic study of a female MEN1 patient with the association of nodular hyperplasia of two parathyroid glands, an insulinoma, multiple duodenal gastrinomas, a prolactinoma, and a gastric carcinoid. We performed loss of heterozygosity (LOH) studies of chromosome 11 on all affected tissues except the insulinoma. Allelic losses of chromosome 11 were detected in several tumors, but the chromosomal regions of LOH were different, suggesting that different somatic mutational events are involved in the pathogenesis of these tumors. LOH of chromosome 11 was also detected in the prolactinoma of this patient, which indicates that the MEN1 gene has a tumor suppressor effect in the pituitary. |
| Databáze: | OpenAIRE |
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