Fig. 1: Clonal evolution and mutation analysis in leukemic lineage switch.
From: Genetics and pathologic landscape of lineage switch of acute leukemia during therapy
A Key clinical, cytogenetic, and molecular findings in patients with leukemic lineage switch. B Clonal architecture of individual patients based on the results of NGS performed on paired specimens of the first and second leukemias. VAF for specific mutations are indicated in parentheses. Dashed circles and dashed lines: inferred clones or pathways without direct molecular evidence. In patient 24, the VAF of JAK2 V617F in both the first and second leukemias was notably lower compared to other mutations, suggesting a loss of JAK2 mutation during leukemic transformation of PV, a phenomenon previously reported. Patient 29 was undergoing steroid treatment at the time of NGS for T-ALL, which was conducted one week after the initial diagnosis, with a bone marrow blast count of 49.5% and peripheral blood blasts at 21% by differential count. MDS myelodysplastic syndrome, NGS next-generation sequencing, Pt patient, PV polycythemia vera, VAF variant allele frequency.
