Abstract
Main objective of this work was to confirm the occurrence of rare BCR-ABL fusion variant involving the a2 region of the ABL gene and e8 of BCR gene in a patient of Myeloproliferative neoplasm positive for t(9;22) translocation but negative for common major and minor breakpoint cluster regions. A patient with elevated white blood cell count was subjected to classical cytogenetics, FISH as well as RT-PCR testing using commercial kits as well as published primers and in house testing protocol. The translocation event in chromosome 9 and 22 could be successfully detected. BCR/ABL dual color, dual fusion probe generated a classical balanced translocation scenario within the nucleus. In RT-PCR we found an unexpectedly large amplification band around 1700 bp, which is consistent with e8a2 transcript. Nine metaphases showed 46,XY,t(9;22)(q34;q11.2)[9] by cytogenetic. A rare e8a2 break point in the BCR-ABL gene in myeloproliferative neoplasm disease detected in India. It also emphasizes the utility of cytogenetic and FISH for primary diagnosis of any neoplasm in blood. Our Patient detected rare BCR-ABL fusion variant e8a2 was on imatinib 400 mg since last 3 months. After 3 months fluorescent in situ analysis and reverse transcriptase pcr analysis showed negative results.
Similar content being viewed by others
References
Van Dongen JJ, Macintyre EA, Gabert JA et al (1999) Standardized RT-PCR analysis of fusion gene transcripts from chromosome aberrations in acute leukemia for detection of minimal residual disease. Report of the BIOMED-1 Concerted Action: investigation of minimal residual disease in acute leukemia. Leukemia 13(12):1901–1928
Kumar D, Panigrahi MK, Dewangan D et al (2014) Atypical BCR-ABL fusion transcript (e6a2) in pediatric acute lymphoblastic leukemia. Int J Case Rep Images 5(1):45–49
Mercieca J, Matutes E, Dearden C et al (1994) The role of pentostatin in the treatment of T-cell malignancies: analysis of response rate in 145 patients according to disease subtype. J Clin Oncol 12:2588–2593
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
All the authors mentioned above declares that there is no conflicts of interest with any individual or organization.
Informed Consent
Informed consent obtained from the patient (Form No- F/MISC/09-11-04).
Ethical Approval
This article does not contain any studies with human participants or animals performed by any of the authors.
Rights and permissions
About this article
Cite this article
Panigrahi, M.K., Kumar, D., Mehta, A. et al. Novel e8a2 BCR/ABL Fusion Transcript in Case of a Myeloproliferative Neoplasm. Indian J Hematol Blood Transfus 33, 271–272 (2017). https://doi.org/10.1007/s12288-016-0714-7
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12288-016-0714-7