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

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.

Anahtar Kelime:

Konular: Endokrinoloji ve Metabolizma Pediatri

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık

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APA	AYDOĞAN B, YÜKSEL B, Tuna M, BAŞARAN M, KOCAELİ AKKURT A, ERTÖRER M, AYDIN TEZCAN K, GÜLDİKEN S, Simsek y, ÖZDAMAR KARACA Z, yilmaz m, AKTÜRK M, ANAFOROĞLU İ, KEBAPÇI M, Duran C, TAŞLIPINAR A, Kulaksizoglu M, Gursoy A, DAĞDELEN S, ERDOĞAN M (2016). Distribution of RET Mutations and Evaluation of Treatment Approaches in Hereditary Medullary Thyroid Carcinoma in Turkey. , 13 - 20.
Chicago	AYDOĞAN Berna İmge,YÜKSEL Bağdagül,Tuna Mazhar Müslüm,BAŞARAN Mehtap Navdar,KOCAELİ AKKURT Ayşen,ERTÖRER Melek Eda,AYDIN TEZCAN KADRİYE,GÜLDİKEN Sibel,Simsek yasin,ÖZDAMAR KARACA ZÜLEYHA CİHAN,yilmaz merve,AKTÜRK MÜJDE YAŞIM,ANAFOROĞLU İNAN,KEBAPÇI MEDİNE NUR,Duran Cevdet,TAŞLIPINAR Abdullah,Kulaksizoglu Mustafa,Gursoy Alptekin,DAĞDELEN Selçuk,ERDOĞAN MURAT FAİK Distribution of RET Mutations and Evaluation of Treatment Approaches in Hereditary Medullary Thyroid Carcinoma in Turkey. (2016): 13 - 20.
MLA	AYDOĞAN Berna İmge,YÜKSEL Bağdagül,Tuna Mazhar Müslüm,BAŞARAN Mehtap Navdar,KOCAELİ AKKURT Ayşen,ERTÖRER Melek Eda,AYDIN TEZCAN KADRİYE,GÜLDİKEN Sibel,Simsek yasin,ÖZDAMAR KARACA ZÜLEYHA CİHAN,yilmaz merve,AKTÜRK MÜJDE YAŞIM,ANAFOROĞLU İNAN,KEBAPÇI MEDİNE NUR,Duran Cevdet,TAŞLIPINAR Abdullah,Kulaksizoglu Mustafa,Gursoy Alptekin,DAĞDELEN Selçuk,ERDOĞAN MURAT FAİK Distribution of RET Mutations and Evaluation of Treatment Approaches in Hereditary Medullary Thyroid Carcinoma in Turkey. , 2016, ss.13 - 20.
AMA	AYDOĞAN B,YÜKSEL B,Tuna M,BAŞARAN M,KOCAELİ AKKURT A,ERTÖRER M,AYDIN TEZCAN K,GÜLDİKEN S,Simsek y,ÖZDAMAR KARACA Z,yilmaz m,AKTÜRK M,ANAFOROĞLU İ,KEBAPÇI M,Duran C,TAŞLIPINAR A,Kulaksizoglu M,Gursoy A,DAĞDELEN S,ERDOĞAN M Distribution of RET Mutations and Evaluation of Treatment Approaches in Hereditary Medullary Thyroid Carcinoma in Turkey. . 2016; 13 - 20.
Vancouver	AYDOĞAN B,YÜKSEL B,Tuna M,BAŞARAN M,KOCAELİ AKKURT A,ERTÖRER M,AYDIN TEZCAN K,GÜLDİKEN S,Simsek y,ÖZDAMAR KARACA Z,yilmaz m,AKTÜRK M,ANAFOROĞLU İ,KEBAPÇI M,Duran C,TAŞLIPINAR A,Kulaksizoglu M,Gursoy A,DAĞDELEN S,ERDOĞAN M Distribution of RET Mutations and Evaluation of Treatment Approaches in Hereditary Medullary Thyroid Carcinoma in Turkey. . 2016; 13 - 20.
IEEE	AYDOĞAN B,YÜKSEL B,Tuna M,BAŞARAN M,KOCAELİ AKKURT A,ERTÖRER M,AYDIN TEZCAN K,GÜLDİKEN S,Simsek y,ÖZDAMAR KARACA Z,yilmaz m,AKTÜRK M,ANAFOROĞLU İ,KEBAPÇI M,Duran C,TAŞLIPINAR A,Kulaksizoglu M,Gursoy A,DAĞDELEN S,ERDOĞAN M "Distribution of RET Mutations and Evaluation of Treatment Approaches in Hereditary Medullary Thyroid Carcinoma in Turkey." , ss.13 - 20, 2016.
ISNAD	AYDOĞAN, Berna İmge vd. "Distribution of RET Mutations and Evaluation of Treatment Approaches in Hereditary Medullary Thyroid Carcinoma in Turkey". (2016), 13-20.

APA	AYDOĞAN B, YÜKSEL B, Tuna M, BAŞARAN M, KOCAELİ AKKURT A, ERTÖRER M, AYDIN TEZCAN K, GÜLDİKEN S, Simsek y, ÖZDAMAR KARACA Z, yilmaz m, AKTÜRK M, ANAFOROĞLU İ, KEBAPÇI M, Duran C, TAŞLIPINAR A, Kulaksizoglu M, Gursoy A, DAĞDELEN S, ERDOĞAN M (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), 13 - 20.
Chicago	AYDOĞAN Berna İmge,YÜKSEL Bağdagül,Tuna Mazhar Müslüm,BAŞARAN Mehtap Navdar,KOCAELİ AKKURT Ayşen,ERTÖRER Melek Eda,AYDIN TEZCAN KADRİYE,GÜLDİKEN Sibel,Simsek yasin,ÖZDAMAR KARACA ZÜLEYHA CİHAN,yilmaz merve,AKTÜRK MÜJDE YAŞIM,ANAFOROĞLU İNAN,KEBAPÇI MEDİNE NUR,Duran Cevdet,TAŞLIPINAR Abdullah,Kulaksizoglu Mustafa,Gursoy Alptekin,DAĞDELEN Selçuk,ERDOĞAN MURAT FAİK Distribution of RET Mutations and Evaluation of Treatment Approaches in Hereditary Medullary Thyroid Carcinoma in Turkey. Journal of Clinical Research in Pediatric Endocrinology 8, no.1 (2016): 13 - 20.
MLA	AYDOĞAN Berna İmge,YÜKSEL Bağdagül,Tuna Mazhar Müslüm,BAŞARAN Mehtap Navdar,KOCAELİ AKKURT Ayşen,ERTÖRER Melek Eda,AYDIN TEZCAN KADRİYE,GÜLDİKEN Sibel,Simsek yasin,ÖZDAMAR KARACA ZÜLEYHA CİHAN,yilmaz merve,AKTÜRK MÜJDE YAŞIM,ANAFOROĞLU İNAN,KEBAPÇI MEDİNE NUR,Duran Cevdet,TAŞLIPINAR Abdullah,Kulaksizoglu Mustafa,Gursoy Alptekin,DAĞDELEN Selçuk,ERDOĞAN MURAT FAİK Distribution of RET Mutations and Evaluation of Treatment Approaches in Hereditary Medullary Thyroid Carcinoma in Turkey. Journal of Clinical Research in Pediatric Endocrinology, vol.8, no.1, 2016, ss.13 - 20.
AMA	AYDOĞAN B,YÜKSEL B,Tuna M,BAŞARAN M,KOCAELİ AKKURT A,ERTÖRER M,AYDIN TEZCAN K,GÜLDİKEN S,Simsek y,ÖZDAMAR KARACA Z,yilmaz m,AKTÜRK M,ANAFOROĞLU İ,KEBAPÇI M,Duran C,TAŞLIPINAR A,Kulaksizoglu M,Gursoy A,DAĞDELEN S,ERDOĞAN M Distribution of RET Mutations and Evaluation of Treatment Approaches in Hereditary Medullary Thyroid Carcinoma in Turkey. Journal of Clinical Research in Pediatric Endocrinology. 2016; 8(1): 13 - 20.
Vancouver	AYDOĞAN B,YÜKSEL B,Tuna M,BAŞARAN M,KOCAELİ AKKURT A,ERTÖRER M,AYDIN TEZCAN K,GÜLDİKEN S,Simsek y,ÖZDAMAR KARACA Z,yilmaz m,AKTÜRK M,ANAFOROĞLU İ,KEBAPÇI M,Duran C,TAŞLIPINAR A,Kulaksizoglu M,Gursoy A,DAĞDELEN S,ERDOĞAN M Distribution of RET Mutations and Evaluation of Treatment Approaches in Hereditary Medullary Thyroid Carcinoma in Turkey. Journal of Clinical Research in Pediatric Endocrinology. 2016; 8(1): 13 - 20.
IEEE	AYDOĞAN B,YÜKSEL B,Tuna M,BAŞARAN M,KOCAELİ AKKURT A,ERTÖRER M,AYDIN TEZCAN K,GÜLDİKEN S,Simsek y,ÖZDAMAR KARACA Z,yilmaz m,AKTÜRK M,ANAFOROĞLU İ,KEBAPÇI M,Duran C,TAŞLIPINAR A,Kulaksizoglu M,Gursoy A,DAĞDELEN S,ERDOĞAN M "Distribution of RET Mutations and Evaluation of Treatment Approaches in Hereditary Medullary Thyroid Carcinoma in Turkey." Journal of Clinical Research in Pediatric Endocrinology, 8, ss.13 - 20, 2016.
ISNAD	AYDOĞAN, Berna İmge vd. "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 (2016), 13-20.