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How can structural variant assessment assist in MRD assessment in MDS?

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The MDS Hub was pleased to speak to Guillermo Garcia-Manero, MD Anderson Cancer Centre, Houston, US, about the value of combining structural variant profiling and next-generation sequencing for myelodysplastic syndromes (MDS) prognostication and therapeutic decision-making, based on a recent publication by Garcia-Manero and colleagues in Leukemia.1 We asked, How can structural variant assessment assist in measurable residual disease (MRD) assessment in MDS?

How can structural variant assessment assist in MRD assessment in MDS?

Garcia-Manero begins by discussing the key role of chromosomal banding analysis in the diagnosis and prognosis of patients with MDS, as well its complexities and challenges. Moving forward, Garcia-Manero goes on to consider the advantages of optical genome mapping for structural variant evaluation and the clinical value of this technology, particularly when combined with next-generation sequencing. Garcia-Manero also touches on the future potential of optical genome mapping in acute myeloid leukemia and other hematologic malignancies where chromosomal translocations are relevant.

  1. Yang H, Garcia-Manero G, Sasaki K, et al. High-resolution structural variant profiling of myelodysplastic syndromes by optical genome mapping uncovers cryptic aberrations of prognostic and therapeutic significance. Leukemia. 2022;36:2306-2316. DOI: 1038/s41375-022-01652-8


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