Aberrant BCR-ABL transcript with intronic insertion in a patient with philadelphia chromosome-positive chronic myeloid leukemia: Implications for disease progression

M. Shiratsuchi, K. Muta, R. Minami, S. Motomura, Y. Suehiro, Y. Abe, S. Shiokawa, T. Umemura, T. Fukui, J. Nishimura, H. Nawata

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Abstract

The BCR-ABL fusion gene is important for the leukemogenesis of chronic myeloid leukemia (CML). A relationship between types of BCR-ABL transcripts in CML and clinical features has been proposed. We present here a patient with CML who carried an aberrant BCR-ABL transcript with an intronic sequence insert. A 26-year-old woman was diagnosed as having Philadelphia chromosome (Ph) positive CML. Reverse transcription polymerase chain reaction detected an atypically large BCR-ABL mRNA transcript. Sequencing revealed a 589bp insertion consisting of a 5′ portion of BCR intron b2 and a 3′ portion of ABL intron 1b between BCR exon b2 and ABL exon a2. Although the typical b2a2 transcript was undetectable initially, it appeared after intensive chemotherapy. The aberrant transcript presumably arose as a result of a lack of splicing, and chemotherapy might modify the disease course by selecting the subpopulation of the CML clone expressing typical BCR-ABL mRNA dominantly.

Original languageEnglish
Pages (from-to)411-415
Number of pages5
JournalLeukemia and Lymphoma
Volume41
Issue number3-4
DOIs
Publication statusPublished - Jan 1 2001

All Science Journal Classification (ASJC) codes

  • Hematology
  • Oncology
  • Cancer Research

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    Shiratsuchi, M., Muta, K., Minami, R., Motomura, S., Suehiro, Y., Abe, Y., Shiokawa, S., Umemura, T., Fukui, T., Nishimura, J., & Nawata, H. (2001). Aberrant BCR-ABL transcript with intronic insertion in a patient with philadelphia chromosome-positive chronic myeloid leukemia: Implications for disease progression. Leukemia and Lymphoma, 41(3-4), 411-415. https://doi.org/10.3109/10428190109057996