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Prediction of the prognosis of advanced hepatocellular carcinoma by TERT promoter mutations in circulating tumor DNA

Journal of Gastroenterology and Hepatology Aug 28, 2020

Hirai M, Kinugasa H, Nouso K, et al. - Since the most prominent mutations in patients with hepatocellular carcinoma (HCC) were human telomerase reverse transcriptase (TERT) promoter mutations, researchers assessed the mutations in patients with advanced HCC with plasma circulating tumor DNA (ctDNA) and described their clinical value. From 130 advanced HCC patients who were treated with systemic chemotherapy (n = 86) or transcatheter arterial chemoembolization (n = 44), ctDNA in plasma was collected and TERT promoter mutations were examined with digital droplet PCR. They analyzed 130 individuals, of whom 71 (54.6%) were positive for TERT promoter mutations in ctDNA, of whom 64 patients were −124 bp G>A and 10 were −146 bp G>A. The presence of TERT promoter mutation, systemic chemotherapy, and vascular invasion were significant factors for poor overall survival, as seen in multivariate analysis. Findings suggested an association of TERT promoter mutations in ctDNA with short survival; this could be a useful biomarker in patients with advanced HCC for anticipating prognosis.

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