Distribution of RET Mutations and Evaluation of Treatment Approaches in Hereditary Medullary Thyroid Carcinoma in Turkey

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dc.authoridDagdelen, Selcuk/0000-0002-0513-1750
dc.authoridyılmaz, merve/0000-0002-3421-8548
dc.authoridAkkurt Kocaeli, Aysen/0000-0001-7604-0605
dc.authoridERTORER, MELEK EDA/0000-0001-7357-8709
dc.authoridANAFOROĞLU, İNAN/0000-0001-8990-3713
dc.authoridSimsek, Yasin/0000-0003-1654-6422
dc.authorwosidakkurt kocaeli, aysen/KFR-7347-2024
dc.authorwosidDagdelen, Selcuk/A-9432-2017
dc.authorwosidERDOGAN, MURAT/JBJ-5779-2023
dc.authorwosidyılmaz, merve/IXX-0825-2023
dc.authorwosidDuran, Cevdet/AAB-6174-2020
dc.authorwosidAnaforoğlu, İnan/GVS-4239-2022
dc.authorwosidtuna, mazhar müslüm/Q-9568-2017
dc.contributor.authorAydogan, Berna Imge
dc.contributor.authorYuksel, Bagdagul
dc.contributor.authorTuna, Mazhar Muslum
dc.contributor.authorBasaran, Mehtap Navdar
dc.contributor.authorKocaeli, Aysen Akkurt
dc.contributor.authorErtorer, Melek Eda
dc.contributor.authorAydin, Kadriye
dc.date.accessioned2024-06-12T11:15:34Z
dc.date.available2024-06-12T11:15:34Z
dc.date.issued2016
dc.departmentTrakya Üniversitesien_US
dc.description.abstractObjective: This retrospective multicenter study, centrally conducted and supported by the Society of Endocrinology and Metabolism of Turkey, aimed to evaluate the impact of free RET proto-oncogene testing in medullary thyroid carcinoma (MTC) patients. Surgical timing, adequacy of the treatment, and frequency of prophylactic thyroidectomy (PTx) in mutation carriers were also assessed. Methods: Genetic testing for MTC and pheochromocytoma was conducted between July 2008 and January 2012 in 512 patients. Application forms and RET mutation analyses of these patients whose blood samples were sent from various centers around Turkey were assessed retrospectively. An evaluation form was sent to the physicians of the eligible 319 patients who had confirmed sporadic MTC, familial MTC (FMTC), multiple endocrine neoplasia type 2 (MEN2), or who were mutation carriers. Physicians were asked to give information about the surgical history, latest calcitonin levels, morbidity, mortality, genetic screening, and PTx among family members. Twenty-five centers responded by filling in the forms of 192 patients. Results: Among the 319 patients, RET mutation was detected in 71 (22.3%). Cys634Arg mutation was the most prevalent mutation (43.7%), followed by Val804Met in 18 patients (25.4%), and Cys634Tyr in 6 patients (8.5%). Among 192 MTC patients, the diagnosis was sporadic MTC in 146 (76.4%), FMTC in 14 (7.3%), MEN2A in 15 patients (7.9%), and MEN2B in one patient. The number of mutation carriers among 154 apparently sporadic MTC patients was 8 (5.2%). Ten patients were submitted to PTx out of twenty-four mutation carriers at a mean age of 35 +/- 19 years. Conclusion: Turkish people have a similar RET proto-oncogene mutation distribution when compared to other Mediterranean countries. Despite free RET gene testing, the number of the PTx in Turkey is limited and relatively late in the life span of the carriers. This is mainly due to patient and family incompliance and incomplete family counselling.en_US
dc.description.sponsorshipSEMTen_US
dc.description.sponsorshipRET genetic screening is sponsored by SEMT. This research did not receive any grant from any funding agency.en_US
dc.identifier.doi10.4274/jcrpe.2219
dc.identifier.endpage20en_US
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.issue1en_US
dc.identifier.pmid26758973en_US
dc.identifier.scopus2-s2.0-84959185956en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage13en_US
dc.identifier.trdizinid199334en_US
dc.identifier.urihttps://doi.org/10.4274/jcrpe.2219
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/199334
dc.identifier.urihttps://hdl.handle.net/20.500.14551/23986
dc.identifier.volume8en_US
dc.identifier.wosWOS:000378168600002en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherGalenos Yayinciliken_US
dc.relation.ispartofJournal Of Clinical Research In Pediatric Endocrinologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectSporadic Medullary Thyroid Carcinomaen_US
dc.subjectHereditary Medullary Thyroid Carcinomaen_US
dc.subjectMultiple Endocrine Neoplasiaen_US
dc.subjectRET Mutationen_US
dc.subjectEndocrine Neoplasia Type-2en_US
dc.subjectProtooncogene Mutationsen_US
dc.subjectMen 2aen_US
dc.subjectPrevalenceen_US
dc.subjectFamiliesen_US
dc.subjectCanceren_US
dc.subjectGuidelinesen_US
dc.subjectManagementen_US
dc.subjectExperienceen_US
dc.subjectPhenotypeen_US
dc.titleDistribution of RET Mutations and Evaluation of Treatment Approaches in Hereditary Medullary Thyroid Carcinoma in Turkeyen_US
dc.typeArticleen_US

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