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.
Highlights
Differentiated carcinoma is becoming more generalized and socially significant disease
The BRAF mutation is useful for prediction of clinical recurrence in low-risk patients with conventional papillary thyroid carcinoma / T
The oncogene BRAF V600E is associated with a high risk of recurrence and less differentiated papillary thyroid carcinoma due to the impairment of Na+/I- targeting to the membrane / G
Summary
Differentiated carcinoma is becoming more generalized and socially significant disease. Изменение активности генов BRAF, RAS и RET может приводить к нерегулируемой активации клеточной пролиферации по всем вышеназванным механизмам, причем в этих генах наиболее распространенными являются мутации при ПК и ФК [12]. Для диагностики ФН (цитологическое заключение соответствует категории Bethesda IV) на сегодняшний день предложена диагностическая панель из 7 генов: BRAF, KRAS, HRAS, NRAS, RET/PTC1, RET/ PTC3, PAX8/PPARγ с чувствительностью 57–75 % и специфичностью 97–98 % [49, 61, 62]. В случае цитологического ответа «атипия неопределенной степени злокачественности» или «фолликулярное поражение неопределенного значения», что соответствует 3-й категории международной классификации Bethesda Thyroid Cytopathology System [63], может быть использована молекулярно-генетическая панель с определением BRAF, NRAS, HRAS, KRAS, RET/PTC1, RET/ PTC3, PAX8/PPARγ мутаций, которая имеет значительно более высокую чувствительность в определении злокачественного потенциала (63–80 %) по сравнению с простым цитологическим исследованием (5–15 %).
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