Myelodysplastic Syndrome (MDS)

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Myelodysplastic syndromes are a group of clonal myeloid disorders with a relatively heterogeneous spectrum of presentation caused by poorly formed blood cells or ones which malfunction. The major clinical problems in these disorders are caused by cytopenias and the risk of transformation to acute leukemia. This represents 1.9% of all new cancer cases.

The National Comprehensive Cancer Network (NCCN) guidelines recommend the consideration of genetic testing for somatic mutations in genes associated with MDS (these mutations can establish the presence of clonal haematopoiesis, which can exclude benign causes of cytopenias in cases with non-diagnostic morphology, but do not establish a diagnosis of MDS in the absence of clinical diagnostic criteria): TET2, DNMT3A, ASXL1, EZH2, SF3B1, SRSF2, U2AF1, ZRSR2, RUNX1, TP53, STAG2, NRAS, CBL, NF1, JAK2, CALR, MPL, ETV6, GATA2, DDX41, IDH1, IDH2, SETBP1, PHF6, BCOR, FLT3, WT1, NPM1, STAT3, PPM1D.

The therapeutic options for MDS include supportive care, low-intensity therapy, high-intensity therapy including allogeneic HCT, and participation in a clinical trial. Minimal residual disease (MRD) quantification by NGS assesses response after allogeneic HCT and can also be of value during clinical trials. MRD measurement assesses treatment response (AZA, Decytabine or stem cell transplant) and identifies subsidiary patients who have a higher relapse risk, monitors remission status and detects early relapse.

The Altum test comprises a DNA-based multigene panel by NGS of bone marrow aspirates at diagnosis, and MRD testing in the follow-up samples with NGS based assays to detect mutated genes identified in the diagnosis panel (Thermofisher platform), and provides a detailed clinical analysis of the results.

  • WT-1 gene expression quantification.
  • Mutational status: IDH1/IDH2, FLT3 ITD.
  • Mutational screening using a targeted NGS panel (43 genes).
  • Mutational screening by whole exome NGS.
  • Transcriptome profiling using RNA-seq.
  • Gene expression analysis by RT-PCR.
  • CloneSight-Dx: Mutational screening in liquid biopsy using a targeted NGS panel.
Minimal residual disease (MRD) tests
  • CloneSight-MDS: MRD assesment in liquid biopsy by personalized tumor biomarkers monitoring.
  • CloneSignt Dual-MRD: MRD assesment in liquid biopsy (cfDNA and CTC) by personalized tumor biomarkers monitoring using NGS.