E6a2 BCR-ABL fusion with BCR exon 5-deleted transcript in a Philadelphia positive CML responsive to Imatinib.

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 (microBCR-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.

• Authors: Cornel Popovici, Sylvie Cailleres, Martine David, Marina Lafage-Pochitaloff, Danielle Sainty, Marie-Joëlle Mozziconacci
• Journal: Leukemia & lymphoma (Leuk Lymphoma) Vol. 46 Issue 9 Pg. 1375-7 (Sep 2005) ISSN: 1042-8194 [Print] United States
• PMID: 16109618 (Publication Type: Case Reports, Journal Article)

Chemical References

• Benzamides
• Piperazines
• Pyrimidines
• Imatinib Mesylate
• Fusion Proteins, bcr-abl

Topics

• Aged
• Benzamides
• Exons
• Fusion Proteins, bcr-abl (metabolism)
• Humans
• Imatinib Mesylate
• Leukemia, Myelogenous, Chronic, BCR-ABL Positive (drug therapy, genetics, metabolism)
• Male
• Piperazines (therapeutic use)
• Pyrimidines (therapeutic use)