Cytogenetic and molecular analysis of a "masked" Philadelphia chromosome in chronic and blastic phases of chronic myeloid leukemia

Cancer Genet Cytogenet. 1990 Jul 15;47(2):219-25. doi: 10.1016/0165-4608(90)90031-5.

Abstract

A "masked" Philadelphia chromosome (Ph), t(1;22;9)(p32;q11;q34), was found in the bone marrow and peripheral blood cells of a patient with chronic myeloid leukemia (CML) during the chronic and blastic phases of the disease. As an additional change, a reciprocal translocation t(12;13)(p13;q14) was observed in the blastic phase. Southern blot analysis showed a rearrangement of the breakpoint cluster region (bcr). Northern blot analysis with a c-abl probe showed an abnormal 8.5 kb c-abl RNA transcript in addition to the normal 6- and 7-kilobase (kb) c-abl species. Thus, the results demonstrate the presence of a c-abl/bcr rearrangement in the masked Ph corresponding to that observed in the standard Ph translocation t(9;22)(q34;q11) of CML.

Publication types

  • Case Reports

MeSH terms

  • Blast Crisis / genetics*
  • Blast Crisis / pathology
  • Blotting, Northern
  • Blotting, Southern
  • DNA, Neoplasm / genetics
  • Female
  • Humans
  • Karyotyping
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics*
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / pathology
  • Middle Aged
  • Philadelphia Chromosome*
  • RNA, Neoplasm / genetics
  • Restriction Mapping

Substances

  • DNA, Neoplasm
  • RNA, Neoplasm