학술논문
E6a2 BCR-ABL fusion with BCR exon 5-deleted transcript in a Philadelphia positive CML responsive to Imatinib.
Document Type
Article
Author
Source
Subject
*CHRONIC myeloid leukemia
*EXONS (Genetics)
*CHROMOSOMAL translocation
*SPLIT genes
*CHROMOSOMES
*IMATINIB
*ANTINEOPLASTIC agents
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Language
ISSN
1042-8194
Abstract
Chronic myeloid leukemia (CML) is characterized in 90% of patients by the presence of the reciprocal translocation t(9;22)(q34;q11) leading to the fusion of the BCR and ABL genes. Most patients with Philadelphia chromosome positive CML express either the e13a2 (b2a2) or e14a2 (b3a2) MBCR-ABL mRNA. Some variant cases have been reported expressing the fusion e1a2 ( mBCR-ABL ) or e19a2 (μBCR-ABL ). Very rare atypical transcripts such as e13a3, e14a3 or e6a2 have been described. We report here a sixth case of a Ph positive patient with an e6a2 BCR-ABL fusion transcript and describe for the first time a chimeric molecule alternatively spliced for exon 5 of the BCR gene. [ABSTRACT FROM AUTHOR]