High Prevalence of TSHR/Gs alpha Mutation-negative Clonal Hot Thyroid Nodules (HNs) in a Turkish Cohort

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dc.authorid0000-0001-5291-8620
dc.authorid0000-0002-7993-955X
dc.authorid0000-0002-4732-2934
dc.authorid0000-0003-3006-2061
dc.authorwosidBircan, Rıfat/A-7344-2018
dc.authorwosidÜstay, Özlem/ABI-1231-2020
dc.authorwosidsen, leyla semiha/AAQ-4804-2020
dc.contributor.authorSancak, Seda
dc.contributor.authorJaeschke, Holger
dc.contributor.authorEren, Funda
dc.contributor.authorÖzlem, T.
dc.contributor.authorGüllüoğlu, Bahadır
dc.contributor.authorŞen, L. S.
dc.contributor.authorEszlinger, Markus
dc.contributor.authorBircan, R.
dc.date.accessioned2022-05-11T14:28:27Z
dc.date.available2022-05-11T14:28:27Z
dc.date.issued2011
dc.departmentFakülteler, Fen Edebiyat Fakültesi, Biyoloji Bölümü
dc.description.abstractWhereas the majority of hot thyroid nodules are caused by somatic TSH-receptor mutations, the percentage of TSH-receptor mutation negative clonal hot nodules (HN) and thus the percentage of hot nodules likely caused by other somatic mutations are still debated. This is especially the case for toxic multinodular goiter (TMNG). 35 HNs [12 solitary hot nodules (SHN), 23 TMNG] were screened for somatic TSHR mutations in the exons 9 and 10 and for Gs alpha mutations in the exons 7 and 8 using DGGE. Determination of X-chromosome inactivation was used for clonality analysis. Overall TSHR mutations were detected in 14 out of 35 (40%) HNs. A nonrandom X-chromosome inactivation pattern was detected in 18 out of 25 (72%) HNs suggesting a clonal origin. Of 15 TSHR or Gs alpha mutation negative cases 13 (86.6%) showed nonrandom X-chromosome inactivation, indicating clonal origin. The frequency of activating TSHR and/or Gs alpha mutations was higher in SHNs (9 of 12) than in TMNGs (6 of 23). There was no significant difference for the incidence of clonality for HNs between TMNGs or SHNs (p: 0.6396). Activating TSHR and/or Gs alpha mutations were more frequent in SHNs than in TMNG. However, the frequency of clonality is similar for SHN and TMNG and there is no significant difference for the presence or absence of TSHR and/or Gs alpha mutations of clonal or polyclonal HNs. The high percentage of clonal mutation-negative HNs in SHN and TMNG suggests alternative molecular aberrations leading to the development of TSHR mutation negative nodules.
dc.identifier.doi10.1055/s-0031-1280829
dc.identifier.endpage568
dc.identifier.issn0018-5043
dc.identifier.issn1439-4286
dc.identifier.issue8en_US
dc.identifier.pmid21773967
dc.identifier.startpage562
dc.identifier.urihttps://doi.org/10.1055/s-0031-1280829
dc.identifier.urihttps://hdl.handle.net/20.500.11776/6831
dc.identifier.volume43
dc.identifier.wosWOS:000292876100008
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakPubMed
dc.institutionauthorBircan, Rıfat
dc.language.isoen
dc.publisherGeorg Thieme Verlag Kg
dc.relation.ispartofHormone and Metabolic Research
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectTSH-receptor mutation
dc.subjectclonality
dc.subjecttoxic multinodular guatr
dc.subjectthyroid
dc.subjectsolitary hot nodules
dc.subjectThyrotropin Receptor Mutations
dc.subjectStimulating Hormone-Receptor
dc.subjectNeedle-Aspiration Biopsy
dc.subjectIodine-Deficient Area
dc.subjectCell Image-Analysis
dc.subjectSomatic Mutations
dc.subjectHyperfunctioning Adenomas
dc.subjectMultinodular Goiters
dc.subjectOncogenic Mutations
dc.subjectTsh Receptor
dc.titleHigh Prevalence of TSHR/Gs alpha Mutation-negative Clonal Hot Thyroid Nodules (HNs) in a Turkish Cohort
dc.typeArticle

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