Molecular-genetic characterization of ETNK1-mutated MNs. (A) Schematic showing the location of identified mutations within the ETNK1 gene. The pathogenic mutations are highlighted in red; the VUS are shown in black. (B) Table summarizing the distribution of ETNK1 mutations among MN categories in 38 patients (the clinical data for 2 patients was not available). (C) Heat map showing the frequency of ETNK1 mutations and comutations among various MNs in 40 patients. (D) Violin plot demonstrating the comutations with the highest VAF values. ∗ZRSR2 VAF values were divided by 2 due to the gene’s location on the X chromosome. (E) Table summarizing the molecular-genetic features of 38 patients with either pathogenic mutations or VUS. Abnormal karyotypes had 1 or 2 chromosomal aberrations; complex karyotypes had ≥3 chromosomal aberrations. AMML, acute myelomonocytic leukemia; B-ALL, B-cell acute lymphoblastic leukemia; LB, low blast; MF, myelofibrosis; PATH, pathogenic; PMF, primary myelofibrosis.

Molecular-genetic characterization of ETNK1-mutated MNs. (A) Schematic showing the location of identified mutations within the ETNK1 gene. The pathogenic mutations are highlighted in red; the VUS are shown in black. (B) Table summarizing the distribution of ETNK1 mutations among MN categories in 38 patients (the clinical data for 2 patients was not available). (C) Heat map showing the frequency of ETNK1 mutations and comutations among various MNs in 40 patients. (D) Violin plot demonstrating the comutations with the highest VAF values. ∗ZRSR2 VAF values were divided by 2 due to the gene’s location on the X chromosome. (E) Table summarizing the molecular-genetic features of 38 patients with either pathogenic mutations or VUS. Abnormal karyotypes had 1 or 2 chromosomal aberrations; complex karyotypes had ≥3 chromosomal aberrations. AMML, acute myelomonocytic leukemia; B-ALL, B-cell acute lymphoblastic leukemia; LB, low blast; MF, myelofibrosis; PATH, pathogenic; PMF, primary myelofibrosis.

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