A rare chronic myeloid leukemia case with Philadelphia chromosome, BCR-ABL e13a3 transcript and complex translocation involving four different chromosomes

Al Achkar,Walid; Wafa,Abdulsamad; Ali,Bashar Yousef; Manvelyan,Marina; Liehr,Thomas

doi:10.3892/ol_00000139

A rare chronic myeloid leukemia case with Philadelphia chromosome, BCR-ABL e13a3 transcript and complex translocation involving four different chromosomes

Authors:
- Walid Al Achkar
- Abdulsamad Wafa
- Bashar Yousef Ali
- Marina Manvelyan
- Thomas Liehr
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Affiliations: Molecular Biology and Biotechnology Department, Human Genetics Division, Atomic Energy Commission of Syria, Damascus, Syria. ascientific@aec.org.sy
Published online on: September 1, 2010 https://doi.org/10.3892/ol_00000139
Pages: 797-800

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Abstract

The so-called Philadelphia (Ph) chromosome is present in more than 90% of chronic myeloid leukemia (CML) patients. Around 5-10% of these patients show complex translocations involving other chromosomes in addition to and/or besides chromosomes 9 and 22. CML cases with fusion transcripts, such as e13a3, in which ABL exon 3 rather than exon 2 has fused to BCR, are extremely rare. Such reported cases with the e13a3 transcript showed the Ph chromosome on karyotype analysis. This study reported a rare Ph chromosome-positive CML case with new complex chromosomal aberrations and an e13a3 BCR-ABL transcript that has yet to be established. A four-chromosome translocation involving chromosomal regions 12p11.2, 19q13.3, 9q34.1 and 22q11.2, besides a trisomy 8 and a derivative chromosome 12, were identified using high resolution multicolor banding. Reverse transcription polymerase chain reaction products showed the presence of BCR-ABL fusion transcript e13a3, and this signifies the major BCR breakpoint. The significance of the observed rearrangements and their possible role in the progression of CML was investigated.

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