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Başlık: Distribution of RET mutations and evaluation of treatment approaches in hereditary medullary thyroid carcinoma in Turkey
Yazarlar: Aydoğan, Berna İmge
Yüksel, Bağdagül
Tuna, Mazhar Müslüm
Başaran, Mehtap Navdar
Ertörer, Melek Eda
Aydın, Kadriye
Guldiken, Sibel
Şimşek, Yasin
Karaca, Züleyha Cihan
Yılmaz, Merve
Aktürk, Mujde
Anaforoğlu, İnan
Kebapcı, Nur
Duran, Cevdet
Taşlıpınar, Abdullah
Kulaksızoğlu, Mustafa
Gursoy, Alptekin
Dağdelen, Selçuk
Erdoğan, Murat Faik
Uludağ Üniversitesi/Tıp Fakültesi/Endokrinoloji ve Metabolizma Anabilim Dalı.
Kocaeli, Ayşen Akkurt
57142602300
Anahtar kelimeler: Endocrinology & metabolism
Pediatrics
Sporadic medullary thyroid carcinoma
Hereditary medullary thyroid carcinoma
Multiple endocrine neoplasia
RET mutation
Endocrine neoplasia type-2
Protooncogene mutations
Men 2a
Prevalence
Families
Cancer
Guidelines
Management
Experience
Phenotype
Yayın Tarihi: 30-Eyl-2015
Yayıncı: Galenos Yayıncılık
Atıf: Aydoğan, B. İ. vd. (2016). "Distribution of RET mutations and evaluation of treatment approaches in hereditary medullary thyroid carcinoma in Turkey". Journal of Clinical Research in Pediatric Endocrinology, 8(1), Special Issue,13-20.
Özet: Objective: 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.
URI: https://doi.org/10.4274/jcrpe.2219
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4805043/
http://hdl.handle.net/11452/29946
ISSN: 1308-5727
1308-5735
Koleksiyonlarda Görünür:Scopus
TrDizin
Web of Science

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