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Abstract
Introduction: Medullary thyroid carcinoma (MTC) comprises nearly 5% of all cases of thyroid cancer (TC). Aberrant activation of RET (rearranged during transfection) signaling via somatic mutations is the basic molecular mechanism of MTC tumorigenicity. In this study, we determined the incidence of RET gene mutations in exons 10, 11, and 16 in Iranian patients. Methods: A total of 33 patients undergoing thyroidectomy at Imam Khomeini hospital of Tehran, Iran and diagnosed with MTC were enrolled. For investigating mutations in exons 10, 11, and 16, DNA was extracted from tumor tissues, and the genes were amplified by polymerase chain reaction (PCR) and then sequenced. Results: Out of 33 patients, 20 (60.6%) subjects had mutations in one of the examined exons (10, 11, and 16). According to our results, the "ATG918ACG" mutation in codon 918 had the highest rate. Conclusion: Testing RET mutations can be beneficial in clinical evaluation and treatment management of MTC patients.
Highlights
Medullary thyroid carcinoma (MTC) comprises nearly 5% of all cases of thyroid cancer (TC)
For investigating mutations in exons 10, 11, and 16, DNA was extracted from tumor tissues, and the genes were amplified by polymerase chain reaction (PCR) and sequenced
Around 7.5%-10% of TCs originate from parafollicular cells, which is known as medullary thyroid carcinoma (MTC).[1]
Summary
Medullary thyroid carcinoma (MTC) comprises nearly 5% of all cases of thyroid cancer (TC). We determined the incidence of RET gene mutations in exons 10, 11, and 16 in Iranian patients. 1 Thyroid cancer (TC) is a common tumor of endocrine system comprising 5%-10% of all thyroid nodules. Among all types of human tumors, the incidence of TC has increased in recent decades.[1] Around 7.5%-10% of TCs originate from parafollicular cells, which is known as medullary thyroid carcinoma (MTC).[1] According to the Iranian Cancer Institute, TC accounts for 1.8% of all cancers among Iranian people. TC is the seventh, fourteenth, and eleventh most common cancer in Iranian women, men, and general population, respectively.[2]
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