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

BACKGROUND ANDAIM: Human telomerase reverse transcriptase (TERT) promoter mutations were the most prevalent mutations in patients with hepatocellular carcinoma (HCC). We tried to detect the mutations with plasma circulating tumor DNA (ctDNA) in patients with advanced HCC and elucidated their clinical utility. METHODS: Circulating tumor DNA in plasma was extracted from 130 patients with advanced HCC who were treated with systemic chemotherapy (n = 86) or transcatheter arterial chemoembolization (n = 44), and TERT promoter mutations were examined with digital droplet polymerase chain reaction. The correlations between these mutations and the clinical outcome of patients were analyzed. RESULTS: Of the 130 patients examined, 71 patients (54.6%) were positive for TERT promoter mutations in ctDNA, of which 64 patients were -124bp G > A and 10 were -146bp G > A. The presence of TERT promoter mutations was correlated with large intrahepatic tumor size (P = 0.05) and high des-gamma carboxyprothrombin (P = 0.005). Overall survival of the patients with the mutations was significantly shorter than those without them (P < 0.001), and the patients with high (≥ 1%) fractional abundance of the mutant alleles showed shorter survival than those with low (< 1%) fractional abundance. Multivariate analysis revealed that TERT promoter mutation (hazard ratio [HR]: 1.94; 95% confidence interval [CI], 1.18-3.24; P < 0.01), systemic chemotherapy (HR: 2.38; 95% CI, 1.29-4.57; P < 0.01), and vascular invasion (HR: 2.16; 95% CI, 1.22-3.76; P < 0.01) were significant factors for poor overall survival. CONCLUSIONS: TERT promoter mutations in ctDNA were associated with short survival and could be a valuable biomarker for predicting the prognosis of patients with advanced HCC.

Predictors of Radial Head Dislocation in Patients with Multiple Hereditary Exostoses.

Background: Radial head dislocation in patients with multiple hereditary exostoses (MHE) is associated with loss of function and cosmetic problems. The treatment of the deformity with radial head dislocation is difficult and the timing of surgical intervention is important. The aim of this study was to evaluate the factors predictive of radial head dislocation in patients with MHE. Methods: Patients diagnosed with forearm deformity due to MHE between 1995 and 2021 were retrospectively evaluated. Radiographic parameters including radial bow (RB), ulnar bow (UB), total radial bow (TRB), total ulnar bow (TUB), percent ulnar length (PUL), ulnar shortening (US), radial articular angle (RAA), modified Masada classification and irregularity of proximal radioulnar joint (PRUJ) of the dislocated group (group D), that is subluxation or dislocation of the radial head, and the located group (group L) were compared. Results: A total of 18 patients and 25 limbs (5 girls and 13 boys) with a mean age of 10.5 years were included. There were significant differences in TUB (22.8° ± 5.6° vs. 10.7° ± 6.5°), PUL (97.5% ± 5.5% vs. 108.2% ± 7.7%) between group D and group L (p < 0.05). Moreover, irregularity of PRUJ on radiographs was more in group D (p < 0.05). Conclusions: It is possible that appropriate radiographic assessment in relation to radial head dislocation may prevent delayed surgical treatment of forearm deformities in MHE. Level of Evidence: Level IV (Diagnostic).