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Case Report
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| Atypical BCR-ABL fusion transcript (e6a2) in pediatric acute lymphoblastic leukemia | ||||||
| Dushyant Kumar1, Manoj Kumar Panigrahi1, Deepti Dewangan2, Sarjana Dutt3, Khaliqur Rahman4, Anurag Mehta5 | ||||||
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1M.Tech, Jr. Scientist, Molecular Biology Lab, Rajiv Gandhi Cancer Institute and Research Centre, Delhi, India.
2B. Tech, Jr. Scientist, Molecular Biology Lab, GenX Diagnostic, Delhi, India. 3Phd, Associate Director, Research and Development, Oncquest Laboratory Ltd., Delhi, India. 4MD, Hematopathologist, Hematology, Rajiv Gandhi Cancer Institute and Research Centre, Delhi, India. 5MD, Director, Lab Services and Blood Bank, Rajiv Gandhi Cancer Institute and Research Centre, Delhi, India. | ||||||
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| How to cite this article |
| Kumar D, Panigrahi MK, Dewangan D, Dutt S, Rahman K, Mehta A. Atypical BCR-ABL fusion transcript (e6a2) in pediatric acute lymphoblastic leukemia. International Journal of Case Reports and Images 2014;5(1):45–49. |
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Abstract
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Introduction:
Among precursor-B-acute lymphoblastic leukemia cases, BCR-ABL translocation occurs in around 20–30% of adults and in ≤5% of children. Minor breakpoint transcripts (e1a2) are found in about 70% of positive BCR-ABL cases and major breakpoint transcripts (e13a2, e14a2) in about 30% cases. However, other atypical transcripts are sometimes observed.
Case Report: A rare form of chimeric BCR-ABL fusion transcript (e6a2) was detected in a pediatric patient with precursor-B-acute lymphoblastic leukemia by reverse transcriptase polymerase chain reaction. Sequence analysis of the fusion region of the amplified cDNA fragment showed an in-frame joining of exon 6 of the BCR gene and exon 2 of the ABL gene, giving rise to an e6a2 BCR-ABL transcript. This finding was also confirmed by fluorescent in situ hybridization. Conclusion: The findings in this case shows that atypical BCR-ABL transcripts are detectable in acute lymphoblastic leukemia patients without M-BCR-rearrangements. Reverse transcriptase polymerase chain reaction using primers that allow for amplification of all known BCR-ABL transcripts is an appropriate method to detect these rare variants. | |
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Keywords:
BCR-ABL, PCR, FISH, e6a2
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Author Contributions
Dushyant Kumar – Conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Critical revision of the article, Final approval of the version to be published Manoj Kumar Panigrahi – Analysis and interpretation of data, Drafting the article, Final approval of the version to be published Deepti Dewangan – Analysis and interpretation of data Drafting the article, Final approval of the version to be published Khaliqur Rahman – Conception and design, Critical revision of the article, Final approval of the version to be published Sarjana Dutt – Analysis and interpretation of data, Critical revision of the article, Final approval of the version to be published Anurag Mehta – Conception and design, Critical revision of the article, Final approval of the version to be published |
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Guarantor of submission
The corresponding author is the guarantor of submission. |
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Source of support
None |
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Conflict of interest
Authors declare no conflict of interest. |
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Copyright
© Dushyant Kumar et al. 2014; This article is distributed the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any means provided the original authors and original publisher are properly credited. (Please see Copyright Policy for more information.) |
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About The Authors
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