Figure 1.
Comprehensive genetic profiles, hotspots, and VAF distribution of STAT3 and STAT5B variants in LNs and MNs. (A) LNs are displayed on the left (light blue, top row) and MNs on the right (light orange, top row). The World Health Organization (WHO) entities in each group are listed in the second row. The concomitant variants were grouped into the following 6 categories on the basis of their gene function: Epigenetic: epigenetic regulators, genes involving DNA methylation or histone acetylation and deacetylation (light green); SFs: RNA splicing factors (purple); TFs: transcription factors (orange); Signaling: molecules in tyrosine kinase pathway or RAS/MAPK pathways (pink); C: cohesins (light purple); and Others: genes with functions beyond the above categories (various colors). Each column represents 1 patient, each bar represents 1 variant, and split bars indicated 2 or more variants in the same gene. (B) LNs showed predominantly STAT3 variants compared with (C) STAT5B variants (P = .0003), and variants seemed to be concentrated in the SH2 domain of both genes. Among STAT3 variants, in LNs, the D661 variants (including both D661V and D661Y) were most prevalent followed by Y640F. In contrast, in MNs, D661Y, not D661V, was the most common hotspot mutation followed by S614R and Y640F. (C) The STAT5BN642H variant was particularly represented among MNs and only rarely detected in LNs. (D) The distribution of VAFs among LGLLs peaked at a median of 8.8% (solid line; range, 1.4%-48.6%). (E) The VAF distribution in MNs seemed wider with a median VAF of 12.0% (solid line; range, 1.1%-65.2%; [∗] P = .01 by unpaired Student t test) and a significant second population concentrated around 48% to 50% (P = .006 by χ2 test for trend). The dashed lines represent the 25th and 75th percentiles. The relative density of VAF distribution is displayed as previously described.21 AML, acute myeloid leukemia; APL, acute promyelocytic leukemia; MPN, myeloproliferative neoplasm; Neg, negative; NI, no information; NL, normal; NOS, not otherwise specified; SH2, Src homology 2 domain; TAD, topologically associating domain.

Comprehensive genetic profiles, hotspots, and VAF distribution of STAT3 and STAT5B variants in LNs and MNs. (A) LNs are displayed on the left (light blue, top row) and MNs on the right (light orange, top row). The World Health Organization (WHO) entities in each group are listed in the second row. The concomitant variants were grouped into the following 6 categories on the basis of their gene function: Epigenetic: epigenetic regulators, genes involving DNA methylation or histone acetylation and deacetylation (light green); SFs: RNA splicing factors (purple); TFs: transcription factors (orange); Signaling: molecules in tyrosine kinase pathway or RAS/MAPK pathways (pink); C: cohesins (light purple); and Others: genes with functions beyond the above categories (various colors). Each column represents 1 patient, each bar represents 1 variant, and split bars indicated 2 or more variants in the same gene. (B) LNs showed predominantly STAT3 variants compared with (C) STAT5B variants (P = .0003), and variants seemed to be concentrated in the SH2 domain of both genes. Among STAT3 variants, in LNs, the D661 variants (including both D661V and D661Y) were most prevalent followed by Y640F. In contrast, in MNs, D661Y, not D661V, was the most common hotspot mutation followed by S614R and Y640F. (C) The STAT5BN642H variant was particularly represented among MNs and only rarely detected in LNs. (D) The distribution of VAFs among LGLLs peaked at a median of 8.8% (solid line; range, 1.4%-48.6%). (E) The VAF distribution in MNs seemed wider with a median VAF of 12.0% (solid line; range, 1.1%-65.2%; [∗] P = .01 by unpaired Student t test) and a significant second population concentrated around 48% to 50% (P = .006 by χ2 test for trend). The dashed lines represent the 25th and 75th percentiles. The relative density of VAF distribution is displayed as previously described.21 AML, acute myeloid leukemia; APL, acute promyelocytic leukemia; MPN, myeloproliferative neoplasm; Neg, negative; NI, no information; NL, normal; NOS, not otherwise specified; SH2, Src homology 2 domain; TAD, topologically associating domain.

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