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TERT promoter mutation in serum cell-free DNA is a diagnostic marker of primary hepatocellular carcinoma in patients with nonalcoholic fatty liver disease

Oncology Oct 04, 2020

Akuta N, Kawamura Y, Kobayashi M, et al. - In patients with nonalcoholic fatty liver disease (NAFLD), researchers determined if TERT promoter mutation (TERT C228T) in serum cell-free DNA (cfDNA) can be used in the diagnosis of hepatocellular carcinoma (HCC) in this retrospective study. The authors analyzed the connections between TERT C228T in serum cfDNA and levels of AFP and PIVKAII in 57 Japanese patients (36 patients with HCC and 21 without HCC) with a histopathologically confirmed NAFLD background. In addition, they investigated the liver-related survival rate and HCC recurrence rate following initial treatment for HCC. According to multivariate analysis in all of the 57 patients, TERT C228T positive was found to be a significant determinant of primary HCC. In the 36 patients with HCC, 63.9% of patients were positive for TERT C228T. Data reported that 35.3% of patients were positive for TERT C228T with normal AFP and PIVKAII. TERT C228T status did not affect the cumulative liver-related survival rate and HCC recurrence rate. In the early diagnosis of primary HCC in NAFLD patients, the findings illustrate the superiority of TERT C228 T in serum cfDNA compared with AFP and PIVKAII.

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