Background: Telomerase reverse transcriptase promoter (TERTp) mutations are related to a worse prognosis in various malignancies, including papillary thyroid carcinoma (PTC). Since mechanisms responsible for the poorer outcome of TERTp(+) patients are still unknown, searching for molecular consequences of TERTp mutations in PTC was the aim of our study. Methods: The studied cohort consisted of 54 PTCs, among them 24 cases with distant metastases. BRAF V600E, RAS, and TERTp mutational status was evaluated in all cases. Differences in gene expression profile between TERTp(+) and TERTp(−) PTCs were examined using microarrays. The evaluation of signaling pathways and gene ontology was based on the Gene Set Enrichment Analysis. Results: Fifty-nine percent (32/54) of analyzed PTCs were positive for at least one mutation: 27 were BRAF(+), among them eight were TERTp(+), and 1 NRAS(+), whereas five other samples harbored RAS mutations. Expression of four genes significantly differed in BRAF(+)TERTp(+) and BRAF(+)TERTp(−) PTCs. Deregulation of pathways involved in key cell processes was observed. Conclusions: TERTp mutations are related to higher PTC aggressiveness. CRABP2 gene was validated as associated with TERTp mutations. However, its potential use in diagnostics or risk stratification in PTC patients needs further studies.
Introduction. Life induced fluorescence (LIFE) diagnostics can be used as an imaging system of precancerous and neoplastic lesions of the oral mucosa. Neoplastic lesions are visible in pseudo colours, healthy tissue in green colour and abnormal tissue in red colour. All the observed colours present different intensity. Colour intensity is relevant to the grade of dysplasia, carcinoma progress and is called Numerological Value of Color Index (NCV). The aim of our study was to find correlation between autofluorescence diagnostics combined with NCV assessment and histopathological findings of taken specimen biopsies. Patients and methods. 10 patients participated in our study. Lesions affected a variety of intraoral sites. The most common location was: buccal, gingival and mandibular mucosa. Patients were examined using Life Induced Fluorescence diagnosis (400 -750 nm wavelength) with Numerological Value of Color index (NCV) using Onco LIFE system. Afterwards the specimen biopsies from the lesions were taken and histopathological examination was performed. Results. Different NCV and dependence of NCV on the histopathological findings were observed. Conclusion. Diagnostic procedures with the application of white-light imaging with LIFE imaging is not only a significantly faster method and a better diagnostic tool of preneoplastic and neoplastic lesions, but there exist also correlations between measured NCV and histopathological diagnosis. The farther investigations are necessary in order to prove these preliminary findings.
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