Variable regions of chromosome 11 loss in different pathological tissues of a patient with the multiple endocrine neoplasia type I syndrome

Albert Beckers, Roger Abs, Edwin Reyniers, Kristel De Boulle, Achille Stevenaert, Francis R. Heller, Günter Klöppel, Michel Meurisse, Patrick J. Willems

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45 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)1498-1502
Number of pages5
JournalJournal of Clinical Endocrinology and Metabolism
Volume79
Issue number5
DOIs
StatePublished - Nov 1994
Externally publishedYes

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