The Philadelphia chromosome as a secondary abnormality in inv(3)(q21q26) acute myeloid leukemia at diagnosis: confirmation of p190 BCR-ABL mRNA by real-time quantitative polymerase chain reaction

Cancer Genet Cytogenet. 2006 Feb;165(1):70-4. doi: 10.1016/j.cancergencyto.2005.07.015.

Abstract

The Philadelphia chromosome (Ph) as a secondary cytogenetic abnormality is a rare event. It is observed mostly as an additional, late-appearing cytogenetic change during the evolution of acute leukemia and its presentation as a secondary change at the onset of disease is much rarer. We describe here a patient with acute myelogenous leukemia (AML) who had Ph as a secondary chromosome abnormality at diagnosis. Cytogenetic analysis showed an abnormal karyotype, 45,XY,inv(3)(q21q26),-7[4]/45,idem, t(9;22)(q34;q11.2). The p190 variety of BCR-ABL rearrangements was confirmed by a real-time reverse-transcriptase polymerase chain reaction using fluorescent probes. To our knowledge, the minor BCR-ABL fusion gene involving a secondary Ph superimposed on inv(3) and monosomy 7 has not been reported in AML at diagnosis. Along with the identification of more cases, it will be possible to understand the exact role of this secondary Ph in a multistep leukemogenesis.

Publication types

  • Case Reports

MeSH terms

  • Acute Disease
  • Aged
  • Bone Marrow Cells / pathology
  • Chromosome Aberrations*
  • Chromosome Inversion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 3*
  • Fusion Proteins, bcr-abl / genetics*
  • Humans
  • Karyotyping
  • Leukemia, Myeloid / genetics*
  • Leukemia, Myeloid / pathology
  • Male
  • Philadelphia Chromosome*
  • RNA, Messenger / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction / methods

Substances

  • RNA, Messenger
  • Fusion Proteins, bcr-abl