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

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?

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.