Figure 1.
Effects of temporal order on patients with clonally related MN and AITL. Oncoplots display common mutations in paired MNs (M) and AITLs (L) for patients with NGS data from the MN-AITL cohort (A) and the AITL-MN cohort (B). Mutations shared between the paired MNs and AITLs are highlighted in red color, whereas mutations not shared between the 2 neoplasms are highlighted in blue color. Multiple mutations within the same neoplasm are separated into different quadrants within a cell. Cases highlighted by a red circle indicate no clonal relatedness between MNs and AITLs. The case highlighted by a blue circle was excluded for clonal relatedness assessment due to ambiguous NGS result (explained in the note of Table 1). Although case 21 shared TET2 mutation (VAF, 1% in MN vs 41% in AITL) and case 23 shared IDH2 mutation (VAF, 0.3% in MN vs 7.5% in AITL) between the 2 neoplasms, the low VAFs in the MNs were most likely caused by contamination from infiltrating AITL in the bone marrow (confirmed by flow cytometry in case 21 which showed 0.03% abnormal T cells by flow cytometry). Therefore, MNs in these 2 cases were deemed to be negative/equivocal for these mutations. (C) Comparison of clonal relatedness between MN and AITL in both cohorts. All subsequent comparisons between the MN-AITL and AITL-MN cohorts were made among patients with clonally related neoplasms, including the comparisons for sex distribution (D), age at initial diagnosis for MN in the MN-AITL cohort or AITL in the AITL-MN cohort (E), the time (years) between MN and AITL diagnosis (F), MN types (G), number of patients with either 1 CH mutation or ≥ 2 CH mutations in TET2 and/or DNMT3A (H), VAFs of TET2 and DNMT3A mutations among MNs or AITLs (I-L), mutational rates in TET2, DNMT3A, RHOA, and IDH2 in AITLs (M), and mutational rates in TET2, DNMT3A, JAK2, SRSF2, ASXL1, RUNX1, and TP53 in MNs (N). (O) Comparison of paired VAFs for JAK2, TET2, and DNMT3A mutations in MNs from patients with clonally related neoplasms who had mutations in these genes; case numbers for each patient are marked in the graph. (P) Comparison of the overall survival between the patients with MN-AITL (from the time of MN diagnosis) and the patients with AITL-MN (from the time of AITL diagnosis) by Kaplan-Meier analysis. Numbers in the bars in panels C-D,G-H,M-N indicate the specific number of patients in each group. Black lines in the graphs in panels E-F,I-L indicate the median values. Dx, diagnosis; ns, not significant.

Effects of temporal order on patients with clonally related MN and AITL. Oncoplots display common mutations in paired MNs (M) and AITLs (L) for patients with NGS data from the MN-AITL cohort (A) and the AITL-MN cohort (B). Mutations shared between the paired MNs and AITLs are highlighted in red color, whereas mutations not shared between the 2 neoplasms are highlighted in blue color. Multiple mutations within the same neoplasm are separated into different quadrants within a cell. Cases highlighted by a red circle indicate no clonal relatedness between MNs and AITLs. The case highlighted by a blue circle was excluded for clonal relatedness assessment due to ambiguous NGS result (explained in the note of Table 1). Although case 21 shared TET2 mutation (VAF, 1% in MN vs 41% in AITL) and case 23 shared IDH2 mutation (VAF, 0.3% in MN vs 7.5% in AITL) between the 2 neoplasms, the low VAFs in the MNs were most likely caused by contamination from infiltrating AITL in the bone marrow (confirmed by flow cytometry in case 21 which showed 0.03% abnormal T cells by flow cytometry). Therefore, MNs in these 2 cases were deemed to be negative/equivocal for these mutations. (C) Comparison of clonal relatedness between MN and AITL in both cohorts. All subsequent comparisons between the MN-AITL and AITL-MN cohorts were made among patients with clonally related neoplasms, including the comparisons for sex distribution (D), age at initial diagnosis for MN in the MN-AITL cohort or AITL in the AITL-MN cohort (E), the time (years) between MN and AITL diagnosis (F), MN types (G), number of patients with either 1 CH mutation or ≥ 2 CH mutations in TET2 and/or DNMT3A (H), VAFs of TET2 and DNMT3A mutations among MNs or AITLs (I-L), mutational rates in TET2, DNMT3A, RHOA, and IDH2 in AITLs (M), and mutational rates in TET2, DNMT3A, JAK2, SRSF2, ASXL1, RUNX1, and TP53 in MNs (N). (O) Comparison of paired VAFs for JAK2, TET2, and DNMT3A mutations in MNs from patients with clonally related neoplasms who had mutations in these genes; case numbers for each patient are marked in the graph. (P) Comparison of the overall survival between the patients with MN-AITL (from the time of MN diagnosis) and the patients with AITL-MN (from the time of AITL diagnosis) by Kaplan-Meier analysis. Numbers in the bars in panels C-D,G-H,M-N indicate the specific number of patients in each group. Black lines in the graphs in panels E-F,I-L indicate the median values. Dx, diagnosis; ns, not significant.

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