MDS Tokyo 2011 (Yoshida)

Overview

Two-cohort targeted sequencing study of myelodysplastic syndrome (MDS) bone marrow samples, linking somatic mutation profiles to bone marrow morphology. The discovery cohort (80 MDS bone marrows) used a 50-gene targeted panel; the enrichment cohort (155 myeloid neoplasms with myelodysplastic features) used a 95-gene clinical panel. Total analyzed: 235 patients. The study was conducted at Brigham and Women’s Hospital (2013–2018) and selected to represent all combinations of mutations in STAG2, RUNX1, SRSF2, ASXL1, and SETBP1.

Composition

  • Cancer type: MDS.
  • Discovery cohort: 80 MDS bone marrows (from 272 screened), diagnosed 2013–2014; 50-gene targeted panel (VAF cutoff 2%).
  • Enrichment cohort: 155 myeloid neoplasms with myelodysplastic features (from 1047 screened), diagnosed 2014–2018; 95-gene clinical panel.
  • Assay: targeted-dna-seq.

Assays / panels (linked)

Papers using this cohort

  • PMID:21909114 — Yoshida et al.; links MDS morphology to somatic mutations, particularly STAG2.

Notable findings derived from this cohort

  • STAG2 mutations were the strongest predictor of separated megakaryocyte nuclei in both discovery (multivariable OR 32.4; p=0.001) and enrichment (OR 5.54; p<0.001) cohorts PMID:21909114.
  • STAG2 mutations also associated with abnormal myeloid nuclear segmentation (OR 3.04; p=0.016) and myeloid cell hypogranulation (OR 6.48; p<0.001) PMID:21909114.
  • ASXL1 mutations independently associated with separated megakaryocyte nuclei (enrichment cohort OR 2.55; p=0.018) PMID:21909114.
  • Morphologic features (separated megakaryocyte nuclei) may serve as a histologic indicator of underlying STAG2/ASXL1 mutations, analogous to ring sideroblasts for SF3B1 PMID:21909114.

Sources

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