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  susan branford


Professor Susan Branford
Head, Leukemia Unit, Genetis and Molecular Pathology, SA Pathology, Adelaide (Australia)

Genetics & Mutations in CML - Risk & Assessment

  • When to test for BCR::ABL1 kinase mutations?
  • NGS for BCR::ABL1 mutation analysis
  • Frequency of blood cancer-related mutations: Review of up to 500 patients
  • Studies of highly selected patients at diagnosis using NGS
  • Studies of patients in AP/BP using NGS
  • Case study: multiple competing clones drive progression and blast phase phenotype
  • Case study: clonal dynamics of two patients with mutated ASXL1 at diagnosis in chronic phase
  • Summary
  • Question & Answer Session:
    • What are your thoughts on the 35-base-pair insertion?
    • In the absence of single-cell sequencing, is it appropriate to draw the fishplot to represent the mutation clone size & substructure?
    • All these mutations which are subsequently arising in your patients that you have shown: Do you think that they were already present at diagnosis, and therefore a question of the sensitivity of the techniques you have used, or do you think they have been acquired while they were already in full remission?
    • When do you think it will be possible to incorporate genomic risk profile into therapy selection?

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