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Turkish Society for Pediatric Endocrinology and Diabetes
Distribution of RET Mutations and Evaluation of Treatment Approaches in Hereditary Medullary Thyroid Carcinoma in Turkey [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2016; 8(1): 13-20 | DOI: 10.4274/jcrpe.2219

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

Berna İmge Aydoğan1, Bağdagül Yüksel1, Mazhar Müslüm Tuna2, Mehtap Navdar Başaran2, Ayşen Akkurt Kocaeli3, Melek Eda Ertörer4, Kadriye Aydın5, Sibel Güldiken6, Yasin Şimşek7, Züleyha Cihan Karaca7, Merve Yılmaz8, Müjde Aktürk9, İnan Anaforoğlu10, Nur Kebapçı11, Cevdet Duran12, Abdullah Taşlıpınar13, Mustafa Kulaksızoğlu14, Alptekin Gürsoy15, Selçuk Dağdelen5, Murat Faik Erdoğan1
1Ankara University Faculty Of Medicine, Department Of Endocrinology And Metabolism, Ankara, Turkey
2Ankara Numune Training And Research Hospital, Clinic Of Endocrinology And Metabolism, Ankara, Turkey
3Uludağ University Faculty Of Medicine, Department Of Endocrinology And Metabolism, Bursa, Turkey
4Başkent University Faculty Of Medicine, Department Of Endocrinology And Metabolism, Adana, Turkey
5Hacettepe University Faculty Of Medicine, Department Of Endocrinology And Metabolism, Ankara, Turkey
6Trakya University Faculty Of Medicine, Department Of Endocrinology And Metabolism, Edirne, Turkey
7Erciyes University Faculty Of Medicine, Department Of Endocrinology And Metabolism, Kayseri, Turkey
8Dokuz Eylül University Faculty Of Medicine, Department Of Endocrinology And Metabolism, İzmir, Turkey
9Gazi University Faculty Of Medicine, Department Of Endocrinology And Metabolism, Ankara, Turkey
10Trabzon Numune Training And Research Hospital, Clinic Of Endocrinology And Metabolism, Trabzon, Turkey
11Osmangazi University Faculty Of Medicine, Department Of Endocrinology And Metabolism, Eskişehir, Turkey
12Konya Training And Research Hospital, Clinic Of Endocrinology And Metabolism, Konya, Turkey
13Gülhane Military Medical Academy, Department Of Endocrinology And Metabolism, Ankara, Turkey
14Necmettin Erbakan University Faculty Of Medicine, Department Of Endocrinology And Metabolism, Konya, Turkey
15Güven Hospital, Clinic Of Endocrinology And Metabolism, Ankara, 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.

Keywords: Sporadic medullary thyroid carcinoma,hereditary medullary thyroid carcinoma,multiple endocrine neoplasia,RET mutation

Berna İmge Aydoğan, Bağdagül Yüksel, Mazhar Müslüm Tuna, Mehtap Navdar Başaran, Ayşen Akkurt Kocaeli, Melek Eda Ertörer, Kadriye Aydın, Sibel Güldiken, Yasin Şimşek, Züleyha Cihan Karaca, Merve Yılmaz, Müjde Aktürk, İnan Anaforoğlu, Nur Kebapçı, Cevdet Duran, Abdullah Taşlıpınar, Mustafa Kulaksızoğlu, Alptekin Gürsoy, Selçuk Dağdelen, Murat Faik Erdoğan. Distribution of RET Mutations and Evaluation of Treatment Approaches in Hereditary Medullary Thyroid Carcinoma in Turkey. J Clin Res Pediatr Endocrinol. 2016; 8(1): 13-20
Manuscript Language: English
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