Comparison of clinical features of JAK2V617F gene mutation and non-mutation in patients with Budd-Chiari syndrome

Abstract

Objective: To investigate the clinical features of JAK2V617F gene mutation and non-mutation in patients with Budd-Chiari syndrome (BCS). Methods: 17 and 127 BCS cases with JAK2V617F gene mutation (mutation group) and non-gene mutation (non-mutation group) who were continuously treated with interventional therapy between January 2016 to December 2020 in the Affiliated Hospital of Xuzhou Medical University were selected as the research object for a comparative study. The hospitalization and follow-up data of the two groups were analyzed retrospectively, and the deadline for follow-up was June 2021. Quantitative data group differences were analyzed using the independent sample t-test and Wilcoxon rank sum test. Qualitative data group differences were analyzed with χ2 test or Fisher's exact test. Mann-Whitney U test was used to analyze the differences between groups in rank data. Kaplan-Meier method was used to calculate the patient survival and recurrence rate. Results: Age [(35.41±17.10) years vs. (50.09±14.16) years, t=3.915, P<0.001], time of onset (median duration: 3 months vs. 12 months), and the cumulative survival rate (65.5% vs 95.1%; χ2=5.21, P=0.022) were lower in mutation than non-mutation group. Aaspartate aminotransferase, alanine aminotransferase, prothrombin time, Child-Pugh score, Rotterdam score, Model for End-stage Liver Disease score, hepatic vein thrombosis incidence, and the cumulative recurrence rate after intervention were higher in mutation than non-mutation group. The above all indexes had statistically significant differences (P<0.05) between the groups. Conclusion: Younger age, acute onset, severe liver injury, high incidence of hepatic vein thrombosis, and poor prognosis are the features of patients with BCS with JAK2V617F gene mutation than non-mutation.