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dc.creatorDiaz-Cano, Salvador J.es
dc.creatorMiguel Rodríguez, Manuel dees
dc.creatorBlanes, Alfredoes
dc.creatorTashjian, Robertes
dc.creatorWolfe, Hubert J.es
dc.date.accessioned2023-02-06T16:12:41Z
dc.date.available2023-02-06T16:12:41Z
dc.date.issued2001-08-01
dc.identifier.citationDiaz-Cano, S.J., Miguel Rodríguez, M.d., Blanes, A., Tashjian, R. y Wolfe, H.J. (2001). Germline RET 634 Mutation Positive MEN 2A-related C-Cell Hyperplasias Have Genetic Features Consistent with Intraepithelial Neoplasia. The Journal of Clinical Endocrinology & Metabolism, 86 (8), 3948-3957. https://doi.org/10.1210/jcem.86.8.7739.
dc.identifier.issn1945-7197 ; 0021-972Xes
dc.identifier.urihttps://hdl.handle.net/11441/142481
dc.description.abstractC-cell hyperplasias are normally multifocal in multiple endocrine neoplasia type 2A. We compared clonality, microsatellite pattern of tumor suppressor genes, and cellular kinetics of C-cell hyperplasia foci in each thyroid lobe. We selected 11 females from multiple endocrine neoplasia type 2A kindred treated with thyroidectomy due to hypercalcitoninemia. C-cell hyperplasia foci were microdissected for DNA extraction to analyze the methylation pattern of androgen receptor alleles and microsatellite regions (TP53, RB1, WT1, and NF1). Consecutive sections were selected for MIB-1, pRB1, p53, Mdm-2, and p21WAF1 immunostaining, DNA content analysis, and in situ end labeling. Appropriate tissue controls were run. Only two patients had medullary thyroid carcinoma foci. Nine informative C-cell hyperplasia patients showed germline point mutation in RET, eight of them with the same androgen receptor allele preferentially methylated in both lobes. C-cell hyperplasia foci showed heterogeneous DNA deletions revealed by loss of heterozygosity of TP53 (12 of 20), RB1 (6 of 14), and WT1 (4 of 20) and hypodiploid G0/G1 cells (14 of 20), low cellular turnover (MIB-1 index 4.5%, in situ end labeling index 0.03%), and significantly high nuclear area to DNA index ratio. MEN 2A (germline point mutation in RET codon 634) C-cell hyperplasias are monoclonal and genetically heterogeneous and show down-regulated apoptosis, findings consistent with an intraepithelial neoplasia. Concordant X-chromosome inactivation and interstitial gene deletions suggest clone expansions of precursors occurring at a point in embryonic development before divergence of each thyroid lobe and may represent a paradigm for other germline mutations.es
dc.formatapplication/pdfes
dc.format.extent10 p.es
dc.language.isoenges
dc.publisherThe Endocrine Societyes
dc.relation.ispartofThe Journal of Clinical Endocrinology & Metabolism, 86 (8), 3948-3957.
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.titleGermline RET 634 Mutation Positive MEN 2A-related C-Cell Hyperplasias Have Genetic Features Consistent with Intraepithelial Neoplasiaes
dc.typeinfo:eu-repo/semantics/articlees
dcterms.identifierhttps://ror.org/03yxnpp24
dc.type.versioninfo:eu-repo/semantics/publishedVersiones
dc.rights.accessRightsinfo:eu-repo/semantics/openAccesses
dc.contributor.affiliationUniversidad de Sevilla. Departamento de Citología e Histología Normal y Patológicaes
dc.relation.publisherversionhttps://academic.oup.com/jcem/article/86/8/3948/2849067es
dc.identifier.doi10.1210/jcem.86.8.7739es
dc.journaltitleThe Journal of Clinical Endocrinology & Metabolismes
dc.publication.volumen86es
dc.publication.issue8es
dc.publication.initialPage3948es
dc.publication.endPage3957es

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