| Abstract: |
A patient with chronic myeloid leukemia (CML), a normal karyotype and a BCR-ABL rearrangement is presented. Southern blot analysis detected the rearrangement, whereas RT-PCR with b2a2 and b3a2 primers did not. Fluorescence in situ hybridization (FISH) with an ABL probe (9q34.2) and an Mbcr probe (22q11) showed ABL and BCR signals on chromosome 22. Subsequent FISH studies with cosmids mapping to 9q34.3 showed normal hybridization patterns to chromosome 9, suggesting an interstitial insertion of ABL containing DNA sequences into chromosome 22 in this patient. The lack of reciprocal translocation sequences was investigated with RT-PCR, primers a1b and c7. The absence of ABL-BCR gene expression in this and other patients described in the literature with this subtype of Ph-negative CML, does not seem to have an impact on the clinical course of the disease. |
| Keywords: |
adult; controlled study; human cell; case report; in situ hybridization, fluorescence; bone marrow; chromosomes, human, pair 9; chronic myeloid leukemia; oncogene; fluorescence in situ hybridization; gene rearrangement; translocation, genetic; dna sequence; bcr abl protein; chromosome aberrations; gene insertion; karyotype; fusion proteins, bcr-abl; chromosome map; philadelphia 1 chromosome; reciprocal chromosome translocation; chromosome 22; chromosomes, human, pair 22; southern blotting; chromosome 9q; chromosome disorders; humans; human; male; priority journal; article; cosmid; leukemia, myeloid, philadelphia-negative
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