ALL in which the Philadelphia chromosome is present

Last reviewed 01/2018

The presence of the Philadelphia chromosome in patients with ALL is a poor prognostic factor:

  • occurs in 20-30% of adult ALL and in 3% of childhood ALL (1)

  • prior to the advent of tyrosine kinase inhibitors (TKI), Ph+ ALL was associated with a very poor prognosis despite the use of intensive chemotherapy and frequently hematopoietic stem-cell transplantation (HSCT) in first remission
    • development of TKIs revolutionized the therapy of Ph+ ALL. Addition of the first generation ABL1 class TKI imatinib to intensive chemotherapy dramatically increased the survival for children with Ph+ ALL and established that many patients can be cured without HSCT (2)

  • in patients with ALL and a Philadelphia chromosome:
    • 1/3 - have M-bcr (major breakpoint-cluster region) rearrangements (resulting in a 210-kd protein) similar to those in patients with CML
    • 2/3 - have m-bcr (minor breakpoint-cluster region) rearrangements with a consequent 190-kd protein
    • outcome for patients with either variant is equally poor

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