ArticleJournal of clinical research in pediatric endocrinology2016
Distribution of RET Mutations and Evaluation of Treatment Approaches in Hereditary Medullary Thyroid Carcinoma in Turkey.
Article in Journal of clinical research in pediatric endocrinology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed, 12 citations in OpenAlex.
- The clinical consequences of diagnostic delay in sporadic pediatric MEN2B: a case series of 6 children.European journal of pediatrics · 2026Article
- Landscape of Phenotype-Genotype Correlations in Romanian Patients with Medullary Thyroid Carcinoma.Cancers · 2025Article
- Tumor-associated macrophages as a potential therapeutic target in thyroid cancers.Cancer immunology, immunotherapy : CII · 2023Review
- RET Proto-Oncogene Variants in Patients with Medullary Thyroid Carcinoma from the Mediterranean Basin: A Brief Report.Life (Basel, Switzerland) · 2023Article
- Crude annual incidence rate of medullary thyroid cancer and RET mutation frequency.Croatian medical journal · 2021Article
- Case report of adrenocortical carcinoma associated with double germline mutations in MSH2 and RET.American journal of medical genetics. Part A · 2021Article
- Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study.Endocrine connections · 2020Article
- p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer.The Journal of clinical endocrinology and metabolism · 2018Article
- MEN 2B CASES WITH ATYPICAL PRESENTATION, UNUSUAL CLINICAL COURSE AND A LITERATURE REVIEW.Acta endocrinologica (Bucharest, Romania : 2005)Article
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20 authors at 14 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
objectiveThis 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.
methodsGenetic 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.
resultsAmong 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.
conclusionTurkish 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.
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