Clinical characteristics and whole exome sequencing in JAK2 V617F- and CALR -unmutated essential thrombocythemia

Key Points

• The research aims to explore clinical features and genetic mutations in patients with JAK2 V617F- and CALR-unmutated essential thrombocythemia (ET).
• Analyzed clinical data from patients with ET
• Utilized whole exome sequencing (WES) for genetic analysis
• Compared mutation rates between JAK2 V617F-mutated and unmutated cases
• Younger age was noted in JAK2 V617F- and CALR-unmutated ET patients
• Lower incidence of thrombosis in these patients compared to JAK2 V617F-mutated cases
• WES revealed uncommon and potential driver mutations in the unmutated group

Abstract