Characterization of V804M-mutated RET proto-oncogene associated with familial medullary thyroid cancer, report of the largest Turkish family

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dc.contributor.authorBasaran, M. N.
dc.contributor.authorTuna, M. M.
dc.contributor.authorKarakilic, E.
dc.contributor.authorDogan, B. A.
dc.contributor.authorImga, N. N.
dc.contributor.authorBerker, D.
dc.contributor.authorGuler, S.
dc.date.accessioned2024-04-24T16:10:39Z
dc.date.available2024-04-24T16:10:39Z
dc.date.issued2015
dc.departmentDicle Üniversitesien_US
dc.description.abstractPurpose Analysis of the RET proto-oncogen is very important for diagnosis and prognosis of medullary thyroid cancer (MTC). Genotype-phenotype correlation is also well known. Here we report features of the largest known family in Turkey with the V804M-mutated RET proto-oncogene. Methods Thirty members from three generations were evaluated. A RET proto-oncogen mutation, calcitonin (Ct) measurement and thyroid ultrasound were performed on all individuals. Seventeen members had V804M mutation. Fourteen of these patients underwent total thyroidectomy and additional central lymph node dissection for five subjects. Results The mean age of patients with MTC was 46.5 (30-61) years. The mean calcitonin level of RET positive members was 13.27 pg/mL (1-49.8 pg/mL). Three had a basal Ct level above normal limits. Seven of the 14 patients were diagnosed with MTC, and two were diagnosed with papillary thyroid cancer without MTC. One patient had central neck metastasis. Hyperparathyroidism or pheochromocytoma was not detected in any case. Patients who were RET negative, had normal Ct levels and no suspected nodule on ultrasound examination. Conclusions Our study revealed a relatively good prognosis in patients with V804M mutation. Despite the surgery was performed in older age no advance disease was observed.en_US
dc.identifier.doi10.1007/s40618-014-0224-0
dc.identifier.endpage546en_US
dc.identifier.issn0391-4097
dc.identifier.issn1720-8386
dc.identifier.issue5en_US
dc.identifier.pmid25501606
dc.identifier.scopus2-s2.0-84928662102
dc.identifier.scopusqualityQ1
dc.identifier.startpage541en_US
dc.identifier.urihttps://doi.org/10.1007/s40618-014-0224-0
dc.identifier.urihttps://hdl.handle.net/11468/15005
dc.identifier.volume38en_US
dc.identifier.wosWOS:000354403200008
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofJournal of Endocrinological Investigation
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectV804men_US
dc.subjectRet Proto-Oncogeneen_US
dc.subjectFamilial Medullary Thyroid Canceren_US
dc.subjectThyroid Canceren_US
dc.titleCharacterization of V804M-mutated RET proto-oncogene associated with familial medullary thyroid cancer, report of the largest Turkish familyen_US
dc.titleCharacterization of V804M-mutated RET proto-oncogene associated with familial medullary thyroid cancer, report of the largest Turkish family
dc.typeArticleen_US

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