Supplementary Materials

The PDF file includes:

  • Materials and Methods
  • Fig. S1. Genomic characteristics of the training cohort of 156 patients with MDS.
  • Fig. S2. Identification of in-frame alternative transcripts in SF3B1MUT MDS samples by RNA sequencing.
  • Fig. S3. Allele-specific investigation of mutant SF3B1 causal relationship to aberrantly spliced ERFE+12 transcript using Degron-KI strategy.
  • Fig. S4. Massive use of FAM132B/ERFE cryptic junction in one MDS-RS with a bi-allelic alteration of the SF3B1 gene.
  • Fig. S5. Identification of ERFE peptide by LC MS/MS.
  • Fig. S6. Correlation of plasma ERFE concentrations with ERFE+12 transcript, WHO classification, and iron homeostasis parameters.
  • Fig. S7. Biological parameters of low transfusion burden patients with MDS in the training cohort.
  • Fig. S8. Plasma ERFE, ferritin, and hepcidin concentrations at enrollment in 59 patients with MDS according to the response to EPO.
  • Fig. S9. Erythroid-specific expression of ERFE variant transcript.
  • Fig. S10. Variations of ERFE+12 transcript expression SF3B1MUT low-risk MDS after therapy.
  • Fig. S11. Variations in plasma concentration of ERFE protein in SF3B1MUT low-risk MDS after therapy.
  • Fig. S12. Kaplan-Meier curve for the analysis of OS according to ERFE+12/ERFEWT + ERFE+12 ratio.
  • Table S1. Clinical and biological characteristics of the training cohort of 156 patients with MDS according to SF3B1 status.
  • Table S2. Differential expression of ERFE transcripts according to the mutational status of SF3B1, TET2, and DNMT3A genes by RNA sequencing.
  • Table S3. Primer sequences used for fluorescent PCR and RT-qPCR.
  • Table S4. Expression of total ERFE, ERFEWT, and ERFE+12 transcripts by fluorescent PCR and RT-qPCR in nine MDS BM samples.
  • Table S5. Clinical and biological characteristics of the validation cohort of 55 patients with MDS according to SF3B1 status.
  • Table S6. Clinical and biological characteristics of the cohort of 59 patients with MDS in the GFM-Retacrit-2013 cohort according to response status.
  • Table S7. Clinical and biological characteristics of the cohort of 90 patients with MDS with survival data according to SF3B1 and ERFE+12 status.
  • References (59, 60)

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Other Supplementary Material for this manuscript includes the following:

  • Data file S1 (Microsoft Excel format). Differentially expressed transcripts between patients with SF3B1MUT and SF3B1WT MDS by RNA sequencing and custom code.
  • Data file S2 (Microsoft Excel format). Differentially expressed 5′ and 3′ junctions between patients with SF3B1MUT and SF3B1wT MDS by RNA sequencing.
  • Data file S3 (Microsoft Excel format). In-frame and differentially expressed 3′ cryptic ss junctions in SF3B1MUT MDS.