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

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 e13...

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Bibliographic Details
Published in:	Oncology letters Vol. 1; no. 5; pp. 797 - 800
Main Authors:	ACHKAR, WALID AL, WAFA, ABDULSAMAD, ALI, BASHAR YOUSEF, MANVELYAN, MARINA, LIEHR, THOMAS
Format:	Journal Article
Language:	English
Published:	Greece D.A. Spandidos 01-09-2010
Subjects:	chronic myeloid leukemia e13a3 fluorescence in situ hybridization high resolution multicolor banding reverse transcription polymerase chain reaction variant Philadelphia chromosome
Online Access:	Get full text
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Summary:	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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1792-1074 1792-1082
DOI:	10.3892/ol_00000139