An unusual manifestation: Papillary thyroid carcinoma in a patient with ataxia-telengiectasia

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dc.contributor.authorUlusoy, Ezgi
dc.contributor.authorEdeer-Karaca, Neslihan
dc.contributor.authorOzen, Samim
dc.contributor.authorErtan, Yesim
dc.contributor.authorGoksen, Damla
dc.contributor.authorAksu, Guzide
dc.contributor.authorDarcan, Sukran
dc.contributor.authorKutukculer, Necil
dc.date.accessioned2019-10-27T23:09:09Z
dc.date.available2019-10-27T23:09:09Z
dc.date.issued2016
dc.departmentEge Üniversitesien_US
dc.description.abstractAtaxia-telangiectasia (A-T) is a rare autosomal recessive, multisystem, neurodegenerative disorder, characterized by oculocutaneous telangiectasias, variable immunodeficiency and progressive neurological impairment. Definitive diagnosis is made by revealing a disease causing mutation on ATM gene. Missense mutations and polymorphisms of ATM gene can play a role in the development of thyroid papillary carcinoma. A 13-year-old Turkish girl was diagnosed with ataxia telengiectasia at the age of 8 years. When she was 12 years old, multi-nodular goiter was detected by physical examination and ultrasonography. She underwent thyroidectomy and histopathologic investigation revealed a papillary carcinoma with follicular variant. The patient received post-operative radioiodine therapy as well as L-thyroxine treatment because she had residual lesions. Up until now, she is the first Turkish child wit A-T and thyroid carcinoma described in the literature.en_US
dc.identifier.doi10.24953/turkjped.2016.04.018
dc.identifier.endpage445en_US
dc.identifier.issn0041-4301
dc.identifier.issue4en_US
dc.identifier.pmid28276222en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage442en_US
dc.identifier.urihttps://doi.org/10.24953/turkjped.2016.04.018
dc.identifier.urihttps://hdl.handle.net/11454/52542
dc.identifier.volume58en_US
dc.identifier.wosWOS:000398205800018en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTurkish J Pediatricsen_US
dc.relation.ispartofTurkish Journal of Pediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectataxia telengiectasiaen_US
dc.subjectpapillary thyroid carcinomaen_US
dc.titleAn unusual manifestation: Papillary thyroid carcinoma in a patient with ataxia-telengiectasiaen_US
dc.typeArticleen_US

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