Heterogeneity of pediatric NUP98r leukemia. (A) Details of NUP98r leukemia samples (n = 185, left) and analytical pipelines (right). (B) Numbers and functional annotations of fusion partners in the study cohort. Colors indicate protein functional groups. (C) Age distribution related to fusion partners and disease types. Colors indicate disease types. (D) UMAP plots of the transcriptional cohort (n = 2321) colored according to leukemia subtypes (left), NUP98 fusion partners (middle), and enrichment of fusion partners in transcriptional clusters (right). The shapes of dots indicate disease types (circles, AML; triangles, ALL), and colors in the heat map indicate enrichment of fusions in each cluster. Asterisks indicate statistically significant adjusted P values from 2-sided Fisher’s exact tests and the Benjamini-Hochberg adjustment (∗P < .05; ∗∗∗P < .001; black: enriched, blue: exclusive). In panels A and C, lines of the box plots represent the 25% quantile, median, and 75% quantile, and the upper whisker represents the higher value of maxima or 1.5× interquartile range (IQR), and the lower whisker represents the lower value of minima or 1.5× IQR. Abbreviations in leukemia subtypes are found in supplemental Table 10. ETP, early T-cell precursor ALL; MDS/MPN, myelodysplastic syndrome/myeloproliferative neoplasms; tMN, therapy-related myeloid neoplasm; UMAP, uniform manifold approximation and projection.
Figure 1.

Heterogeneity of pediatric NUP98r leukemia. (A) Details of NUP98r leukemia samples (n = 185, left) and analytical pipelines (right). (B) Numbers and functional annotations of fusion partners in the study cohort. Colors indicate protein functional groups. (C) Age distribution related to fusion partners and disease types. Colors indicate disease types. (D) UMAP plots of the transcriptional cohort (n = 2321) colored according to leukemia subtypes (left), NUP98 fusion partners (middle), and enrichment of fusion partners in transcriptional clusters (right). The shapes of dots indicate disease types (circles, AML; triangles, ALL), and colors in the heat map indicate enrichment of fusions in each cluster. Asterisks indicate statistically significant adjusted P values from 2-sided Fisher’s exact tests and the Benjamini-Hochberg adjustment (∗P < .05; ∗∗∗P < .001; black: enriched, blue: exclusive). In panels A and C, lines of the box plots represent the 25% quantile, median, and 75% quantile, and the upper whisker represents the higher value of maxima or 1.5× interquartile range (IQR), and the lower whisker represents the lower value of minima or 1.5× IQR. Abbreviations in leukemia subtypes are found in supplemental Table 10. ETP, early T-cell precursor ALL; MDS/MPN, myelodysplastic syndrome/myeloproliferative neoplasms; tMN, therapy-related myeloid neoplasm; UMAP, uniform manifold approximation and projection.

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