Comparison of mutation profiles in MDS and AML: A single site experience

Dr. Elizabeth McCready, PhD, FCCMG

Head of Molecular Cytogenetics, Hamilton Regional Laboratory Medicine Program, Ontario, Canada & Associate Professor, McMaster University, Ontario, Canada

Dr. McCready’s research activities are largely translational in nature, with particular interest in application of molecular cytogenetic techniques to characterise clinically relevant genetic variants that contribute to developmental disorders and cancer.

In this AMP 2022 session, Dr. McCready examines mutation profiles in AML and MDS from a large Southern Ontario cohort utilising two NGS panels, including OGT’s SureSeq Myeloid™ NGS panel.

Dr. McCready illustrates how the SureSeq Myeloid NGS portfolio provides her lab with robust detection of somatic mutations in high GC- content genes such as CEBPA and structural variants such as IDTs in the FLT3 gene, among others.

Recent publications from the speaker

1. Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)
2. Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462
3. A retrospective cohort study of donor cell leukemia

Disclaimer

This presentation is intended for educational purposes only and does not replace independent professional judgment. Statements of fact and opinions expressed are those of the presenters individually and, unless expressly stated to the contrary, are not the opinion or position of the Oxford Gene Technology Group (OGT). OGT does not endorse or approve, and assumes no responsibility for, the content, accuracy or completeness of the information presented.

SureSeq™: For Research Use Only; Not for Use in Diagnostic Procedures.