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

Program:
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?

If you have any questions or comments to the speaker, please email info@cml-foundation.org.