Second case of CML with aberrant BCR-ABL fusion transcript (e8/a2) with insertion of an inverted ABL intron 1b sequence

American Journal of Hematology
T SugimotoT Koizumi

Abstract

We found a case of Ph-positive chronic myelogenous leukemia (CML) patient with an atypical BCR-ABL transcript that was undetectable by a routine reverse transcription polymerase chain reaction (RT-PCR) for major BCR-ABL. Additional RT-PCR and sequence analyses have demonstrated that the aberrant transcript consists of a fusion of BCR exon 8 (e8) and ABL exon 2 (a2) with an insertion of a 55-bp inverted sequence of intron 1b between them. The nucleotide sequences of the aberrant transcript were identical to those of a previously reported CML patient. These are the only two CML cases in the literature with identical aberrant BCR-ABL transcripts.

References

Mar 1, 1997·British Journal of Haematology·K OkamotoT Naruse

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Citations

Mar 5, 2016·Leukemia & Lymphoma·Prashant A DeshpandePoonkuzhali Balasubramanian
Aug 30, 2008·Cancer Genetics and Cytogenetics·Il Joong ParkSung Ran Cho
Dec 6, 2006·Translational Research : the Journal of Laboratory and Clinical Medicine·Hyun-Gyung GohDong-Wook Kim
Aug 8, 2015·Genes, Chromosomes & Cancer·Sarah HuetUNKNOWN GBMHM (Groupe des Biologistes Moléculaires des Hémopathies Malignes, French Molecular Biology Group in Hematology)

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