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

作者：Al Achkar Walid^*; Wafa Abdulsamad; Ali Bashar Yousef; Manvelyan Marina; Liehr Thomas

来源：Oncology Letters, 2010, 1(5): 797-800.

DOI：10.3892/ol_00000139

• chronic myeloid leukemia
• variant Philadelphia chromosome
• e13a3
• fluorescence in situ hybridization
• high resolution multicolor banding
• reverse transcription polymerase chain reaction

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 legions 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.

• 出版日期2010-10