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Endocrine Abstracts (2013) 32 P1086 | DOI: 10.1530/endoabs.32.P1086

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; 5Adana Department of Endocrinology and Metabolism Diseases, Faculty of Medicine, 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, Gulhane Military Medical Academy, Ankara, Turkey; 14Department of Endocrinology and Metabolism Diseases, Faculty of Medicine, Necmettin Erbakan University, Konya, Turkey.


Introduction: RET mutation analysis has a critical importance for determining clinical approach to hereditary medullary thyroid carcinoma (MTC). The current guidelines recommends to determine the timing of prophylactic thyroidectomy depending on the risk stratification, mainly decided by the type of the mutation.

Methods: Society of Endocrinology and Metabolism of Turkey (SEMT) sponsored ret genetic screening between July 2008 and January 2012 in 513 patients. Application forms of 513 patients whose blood samples were sent by their doctors to SEMT were assessed. We aimed to evaluate 319 eligible patients who had sporadic, familial MTC, MEN 2 or mutation carriers from known families. Physicians were asked to give information about, surgical history, latest calcitonin levels, survival of the patients and also further genetic screening and prophylactic thyroidectomies among family members. An evaluation form had been prepared for each patient and sent to their doctors all around the country. Twenty-five centers responded by filling in the forms of 192 patients.

Results: Mean follow-up period was 40 months. At the time of diagnosis 15 (13%) patients had stage 4 disease and 13 (86.6%) of these cases were sporadic. In their last control 80 patients (41.9%) were in remission, 21 patients (11%) had locoregional disease and 29 (15.2%) had distant metastases. Seven sporadic and one MEN2A patient were lost due to metastases. Sorafenib was the most preferred chemotherapeutic drug in metastatic patients (n=14). Prophylactic thyroidectomy was performed only in ten patients and mean prophylactic thyroidectomy age was 35. There were 14 patients who had not yet been operated although RET mutation was detected.

Discussion: MTC is a relatively rare thyroid cancer. Although genetic testing is available with the courtesy of SEMT. Unfortunately the numbers of the prophylactic thyroidectomies is still insufficient and the timing is late.

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