American Society of Hematology

Figure 1.

$Figure 1. Genotypic and clinical features sMDS and pMDS including those with −7/del(7q). (A) Proportion of −7/del(7q) in sMDS (n = 27) compared with that in pMDS (hypo-MDS, n = 28; normo-/hyper-MDS, n = 680) (*P < .001). Overall, 14% of patients with myeloid neoplasms (n = 1179) showed −7/del(7q). (B) Mutational spectrum in −7/del(7q) patients with sMDS (n = 15) vs pMDS (n = 92) (*P < .01). (C-D) Paired whole exome sequencing or targeted deep sequencing was performed in sMDS, and any somatic mutations were identified in 8 cases. After driver mutations were identified, a custom targeted deep sequencing panel was designed and applied to the corresponding samples obtained at AA presentation. Mutations detected at both time points and fractions of patients in whom mutations were detected are shown. List of the genes affected is provided. Average numbers of mutations were shown in subsequent progressors and nonprogressors (*P = .005). (E) Individual bars represent fractions of cases with specific gene mutations among 49 PNH, 133 AA, and 876 MDS cases (supplemental Table 1; see also supplemental Materials and Methods). Supplemental Table 4 describes the multiamplicon sequencing panel. Significant differences in the distribution of mutations were shown in supplemental Table 5. Mutated genes were grouped according to functional relationships: splicing factors (SF3B1, SRSF2, U2AF1/2, and ZRSR2); RAS family (KRAS, NF1, NRAS, and PTPN11); PRC2 complex genes (EED, EZH2, and SUZ12); cohesin complex genes (RAD21, SMC3, and STAG2); RNA helicases (DDX41, DDX54, and DHX29); and RTK family (CSF1R, FLT3, and KIT). sMDS (post-AA MDS or post-PNH MDS); % of PNH cells defined as ratio of patients with PNH cells (>1%) detected by flow cytometry or with PIGA mutations identified by deep sequencing. There were 12 AA cases in both at presentation (before IST) and after IST cohort. AML, acute myeloid leukemia.$

Genotypic and clinical features sMDS and pMDS including those with −7/del(7q). (A) Proportion of −7/del(7q) in sMDS (n = 27) compared with that in pMDS (hypo-MDS, n = 28; normo-/hyper-MDS, n = 680) (*P < .001). Overall, 14% of patients with myeloid neoplasms (n = 1179) showed −7/del(7q). (B) Mutational spectrum in −7/del(7q) patients with sMDS (n = 15) vs pMDS (n = 92) (*P < .01). (C-D) Paired whole exome sequencing or targeted deep sequencing was performed in sMDS, and any somatic mutations were identified in 8 cases. After driver mutations were identified, a custom targeted deep sequencing panel was designed and applied to the corresponding samples obtained at AA presentation. Mutations detected at both time points and fractions of patients in whom mutations were detected are shown. List of the genes affected is provided. Average numbers of mutations were shown in subsequent progressors and nonprogressors (*P = .005). (E) Individual bars represent fractions of cases with specific gene mutations among 49 PNH, 133 AA, and 876 MDS cases (supplemental Table 1; see also supplemental Materials and Methods). Supplemental Table 4 describes the multiamplicon sequencing panel. Significant differences in the distribution of mutations were shown in supplemental Table 5. Mutated genes were grouped according to functional relationships: splicing factors (SF3B1, SRSF2, U2AF1/2, and ZRSR2); RAS family (KRAS, NF1, NRAS, and PTPN11); PRC2 complex genes (EED, EZH2, and SUZ12); cohesin complex genes (RAD21, SMC3, and STAG2); RNA helicases (DDX41, DDX54, and DHX29); and RTK family (CSF1R, FLT3, and KIT). sMDS (post-AA MDS or post-PNH MDS); % of PNH cells defined as ratio of patients with PNH cells (>1%) detected by flow cytometry or with PIGA mutations identified by deep sequencing. There were 12 AA cases in both at presentation (before IST) and after IST cohort. AML, acute myeloid leukemia.

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