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Proceedings of the National Academy of Sciences of Belarus, Medical series

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MOLECULAR-GENETIC MARKERS OF HIGH-DIFFERENTIATED FORMS OF THYROID CANCER

https://doi.org/10.29235/1814-6023-2018-15-2-244-256

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Abstract

Highly differentiated carcinoma is becoming more generalized and socially significant disease. Being spread among the highly prevalent benign thyroid nodules, this pathology creates additional requirements for early diagnostics. Detection of certain mutations, like BRAF, RAS, PIK3CA, AKT1, PTEN, ТР53, TERT, RET/PTC, PAX8-PPARγ, CTNNB1 in the fine needle aspiration material of papillary, follicular, medullar and anaplastic thyroid carcinoma or follicular  adenoma of the thyroid is used for the improved diagnostics and correct treatment of this conditions. Authors consider, that combination of two biomarkers and more in a single test-panel will provide a diagnostically significant result for the detection and prognosis of the development of the carcinoma, what is important for the  creation of the patient’s follow up plan. As for the diagnostics of follicular neoplasias a diagnostic panel of 7 genes was proposed: BRAF, KRAS, HRAS, NRAS, RET/PTC1, RET/PTC3, PAX8/PPARγ with a sensitivity 57–75 % and specificity 97–98 %. In case of cytological result of “atipia of non identified malignancy potential” or “follicular lesion of non identified significance” usage of this panel will be highly effective. In case of papillary thyroid carcinoma suspicion a BRAF gene (sensitivity – 36 %, specificity – 98 %) or a gene-panel of BRAF, RAS, RET/PTC, PAX8/PPARγ (sensitivity – 50–68 %, specificity – 86–96 %) should be analyzed. Test-panels ThyroSeq (versions 1 and 2), ThyGenX, RosettaGXReveal and ThyroidPrintThyr with the sensitivity of about 90 % substantially increase the quality of diagnostics, however their cost and complexity in implication of this tests prevent their usage as routine methods.

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Tuzava H.A., Lushchyk M.L., Danilova L.I. MOLECULAR-GENETIC MARKERS OF HIGH-DIFFERENTIATED FORMS OF THYROID CANCER. Proceedings of the National Academy of Sciences of Belarus, Medical series. 2018;15(2):244-256. (In Russ.) https://doi.org/10.29235/1814-6023-2018-15-2-244-256

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ISSN 1814-6023 (Print)
ISSN 2524-2350 (Online)