NOTE

philadelphia_chromosome

  • BCR–ABLE1 gene fusion,
  • reciprocal translocation between chrs 9 (ABLE1) & 22 (BCR)
    • −> t(9;22)(q34;q11),
  • identified by karyotype/FISH (noncryptic) in 95% of cases
    • → encodes constitutively activated tyrosine kinase central to CML pathogenesis → progression to AP/BC based on clonal evolution,
    • likely additional molecular changes,
    • ABLE kinase muts