Clinical Translational Research Oncology DOI: 10.1159/000510366

Received: July 3, 2020 Accepted: July 20, 2020 Published online: September 30, 2020

TERT Promoter Mutation in Serum Cell-Free DNA Is a Diagnostic Marker of Primary Hepatocellular Carcinoma in Patients with Nonalcoholic Fatty Liver Disease Norio Akuta a Yusuke Kawamura a Mariko Kobayashi b Yasuji Arase a Satoshi Saitoh a Shunichiro Fujiyama a Hitomi Sezaki a Tetsuya Hosaka a Masahiro Kobayashi a Yoshiyuki Suzuki a Fumitaka Suzuki a Kenji Ikeda a Hiromitsu Kumada a  

 

 

 

 

 

 

 

 

 

 

 

 

aDepartment of Hepatology, Toranomon Hospital and Okinaka Memorial Institute for Medical Research, Tokyo, Japan; bLiver Research Laboratory, Toranomon Hospital, Tokyo, Japan

Abstract Introduction: It remains unclear whether TERT promoter mutation (TERT C228T) in serum cell-free DNA (cfDNA) is useful for the diagnosis of hepatocellular carcinoma (HCC) in patients with nonalcoholic fatty liver disease (NAFLD). Methods: In this retrospective study, we analyzed the relationships between TERT C228T in serum cfDNA and levels of AFP and PIVKAII in 57 Japanese patients with histopathologically confirmed NAFLD background, consisting of 36 patients with HCC and 21 without HCC. We also examined the liverrelated survival rate and HCC recurrence rate after the initial treatment for HCC. TERT C228T was detected using a highly sensitive method based on wild-type blocking PCR (detection limit in excess of 0.7% mutant-type DNA). Results: In all of the 57 patients, multivariate analysis identified TERT C228T positive as significant determinant of primary HCC. In the 36 patients with HCC, the percentage of patients positive

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for TERT C228T was 63.9%. The percentage of patients positive for TERT C228T with normal AFP and PIVKAII was 35.3%. The positive predictive value and specificity for prediction of BCLC stage 0 or A were both high. In 6 patients, TERT C228T was repeatedly negative during follow-up but became positive at the time of HCC diagnosis. Four patients who underwent HCC surgical resection had well-differentiated solitary HCC measuring

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Clinical Translational Research Oncology DOI: 10.1159/000510366 Received: July 3, 2020 Accepted: July 20, 2020 Published online: September 30, 2020...
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