BCR-ABL Positive
• Chronic myelogenous leukemia (CML) is a
multipotential hematopoietic stem cell
disease characterized by
• anemia,
• extreme blood granulocytosis and
granulocytic immaturity, basophilia,
• often thrombocytosis,
• and splenomegaly
Variant Ph chromosome
• Variant Ph chromosome translocations occur in
approximately 5-10 percent of subjects with CML and
involve complex rearrangements (three chromosomes), and
every chromosome except the Y chromosome can be
involved. In almost all the cases with variant Ph
chromosome, the BCR-ABL rearrangement can be
detected by molecular methods or by fluorescence in situ
hybridization (FISH).
• Simple variant:
– 22q−, is present, but the gross exchange of chromosomal material
involves a chromosome other than 9
• Complex variant
– involves exchange of material among chromosomes 9 and 22 and a
third or more chromosomes
• Complex translocations involving chromosome 3 have been
notable.
• In rare cases, a reciprocal translocation with a chromosome
other than 9 to chromosome 22 is larger than usual, and the
post-translocation shortening of the long arms of 22 is not
apparent. This circumstance has been referred to as a
masked Ph chromosome or masked translocation because
the 22q− is not evident by microscopic examination,
although t(9;22) may occur as judged by banding techniques
or molecular probes.