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. Author manuscript; available in PMC: 2020 Sep 8.
Published in final edited form as: N Engl J Med. 2015 Jul 2;373(1):35–47. doi: 10.1056/NEJMoa1414799

Figure 2. Clinical Correlations with Somatic Mutations.

Figure 2.

Gene set enrichment analysis using a PVS algorithm identified sets of genes that associate with good and poor response to immunosuppressive therapy (panel A), OS (panel B), and PFS (panel C) in the NIH cohort. (A) Inferior response to immunosuppressive therapy in a group of patients with “unfavorable” mutations (DNMT3A, ASXL1, TP53, RUNX1, JAK2, JAK3, or CSMD1) and a superior response with “favorable” mutations (PIGA or BCOR/BCORL1) compared to an “unmutated” group (P=0.029 by chi-square test). The width of each column represents the number of patients in each group and the response to immunosuppressive therapy is color-coded, with non-response shown in red, partial response in green, and complete response in blue. (B) Kaplan-Meier overall survival is compared among three groups: “favorable” mutations in PIGA or BCOR/BCORL1 (blue), “unmutated” (in green), and patients with “unfavorable” mutations in DNMT3A ASXL1, TP53, RUNX1, or CSMD1 (red). (C) Kaplan-Meier progression-free survival compares patients with “favourable” mutations in PIGA, or BCOR/BCORL1 (in green), “unmutated” cases (blue), and patients with “unfavorable” DNMT3A, ASXL1, RUNX1, JAK2, or JAK3 mutations (red). (D) Kaplan-Meier overall survival in patients younger than 60 years is compared among three groups: “favorable” mutations in PIGA or BCOR/BCORL1 (blue), “unmutated” (in green), and patients with “unfavorable” mutations in DNMT3A ASXL1, TP53, RUNX1, or CSMD1 (red). Statistical comparisons among groups used log-rank tests and p values are shown on the graphs. The “unmutated” group of patients included patients with other candidate gene mutations that did not cluster in gene set enrichment analysis with either favourable or unfavorable groups (results were similar when unmutated patients—no candidate gene mutations detected—were used as the reference group). Thirteen patients with “mixed” mutations were excluded from the gene set enrichment analysis.