Since VAF of TP53 mutation increased to 87.5% in transformed AML cells, transition from heterozygosity to homozygosity in TP53 mutation might be associated with evolution to AML, as previously reported7,8,36 However, the effect of the pathophysiology of SMARCC2, UBR4, and ZNF143 mutations on the development and progression of ET is, to date, unclear. The gene discussed is SMARCC2; the disease is essential thrombocythemia.