ECE2013 Poster Presentations Thyroid cancer (64 abstracts)
Distribution of ret proto-oncogene mutations among Turkish familial medullary thyroid cancer/multiple endocrine neoplasia 2 patients
Bagdagül Yüksel 1 , Berna Imge Aydogan 1 , Alptekin Gürsoy 2 , Mazhar Müslüm Tuna 3 , Mehtap Navdar Basaran 3 , Aysen Akkurt 4 , Eda Ertörer 5 , Kadriye Aydin 6 , Sibel Güldiken 7 , Yasin Simsek 8 , Züleyha Karaca 8 , Merve Yılmaz 9 , Müjde Aktürk 10 , Inan Anaforoglu 11 , Nur Kebapçi 12 , Abdullah Taslipinar 13 , Mustafa Kulaksizoglu 14 , Dilek Berker 3 , Tomris Erbas 6 & Murat Faik Erdogan 1
1Department of Endocrinology and Metabolism Diseases, Faculty of Medicine, Ankara University, Ankara, Turkey; 2Department of Endocrinology, Ankara Güven Hospital, Ankara, Turkey; 3Department of Endocrinology and Metabolism Diseases, Ankara Numune Education and Research Hospital, Ankara, Turkey; 4Department of Endocrinology and Metabolism Diseases, Faculty of Medicine, Uludag University, Bursa, Turkey; 5Department of Endocrinology and Metabolism Diseases, Faculty of Medicine, Adana Hospital, Baskent University, Adana, Turkey; 6Department of Endocrinology and Metabolism Diseases, Faculty of Medicine, Hacettepe University, Ankara, Turkey; 7Department of Endocrinology and Metabolism Diseases, Faculty of Medicine, Trakya University, Edirne, Turkey; 8Department of Endocrinology and Metabolism Diseases, Faculty of Medicine, Erciyes University, Kayseri, Turkey; 9Department of Endocrinology and Metabolism Diseases, Faculty of Medicine, Dokuz Eylül University, Izmir, Turkey; 10Department of Endocrinology and Metabolism Diseases, Faculty of Medicine, Gazi University, Ankara, Turkey; 11Trabzon Numune Education and Research Hospital, Trabzon, Turkey; 12Department of Endocrinology and Metabolism Diseases, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey; 13Department of Endocrinology and Metabolism Diseases, Gülhane Military Medical Academy, Ankara, Turkey; 14Department of Endocrinology and Metabolism Diseases, Faculty of Medicine, Necmettin Erbakan University, Konya, Turkey.
Introduction: TURK-MEN study was carried out to evaluate the mutational analysis of so called sporadic MTC patients between 1994 and 2005. Our aim was to evaluate the ret genetic screening results, distribution of mutations among so called sporadic and hereditary MTC patients in Turkey between 2008 and 2012.
Methods: Society of Endocrinology and Metabolism of Turkey (SEMT) sponsored ret genetic screening between July 2008 and January 2012 in 513 patients. We excluded family members of known patients who do not have ret mutation and patients with pheochromocytoma without mutation. We invited physicians of 319 eligible patients who had sporadic, familial MTC, MEN 2 or mutation carriers from known families and forms of 192 patients were attained. Analysis of exon 10, 11, 13, 14, 15 and 16 was performed.
Results: Between 2008 and 2012, among 513 patients whose blood samples were sent for evaluation, ret genetic mutation was detected in 71 patients (13.8%). Cys634Arg mutation was the most prevalent mutation. Cys634Arg mutation was detected in 31 patients (43.6%), Val804Met was detected in 18 patients (25.3%) and Cys634Tyr mutation was detected in six patients (8.4%). Other rare mutations were Tyr791Phe, Cys618Ser, Met918Thr, Cys634Gly, Y790Phe, Tyr790Phe, Leu790Phe, Ser891Ala. The number of mutation carriers among 154 apparently sporadic MTC patients was 13 (8.4%).
Conclusion: This is the largest mutation analysis ever done in Turkey. This trial shows that Val804 mutation is also an important mutation with 25.3% frequency in Turkish population besides Cys634 mutations.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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