Molecular analysis of BCR-ABL1 fusion transcripts in acute leukemia patients in Southern Odisha, India
DOI:
https://doi.org/10.15584/ejcem.2026.1.8Keywords:
acute leukemia, acute lymphoblastic leukemia, acute myeloid leukemia, BCR-ABL1fusion transcript, polymerase chain reactionAbstract
Introduction and aim. The occurrence of BCR-ABL1 fusion transcript in acute-leukemia cases are limited and is characterized with various subtypes. This study was based on investigation of the BCR-ABL1 fusion transcript in acute-leukemia cases in a tertiary care hospital.
Material and methods. This cross-sectional study was carried out in suspected cases of acute leukemia. Cases were analyzed for complete blood counts, peripheral smear, bone marrow and flow-cytometry for the diagnosis of acute-leukemia. Additionally, diagnosed cases were investigated for BCR-ABL1 fusion transcript by PCR amplification using reverse transcriptase enzyme followed by documentation.
Results. Approximately 55 acute leukemia cases included, diagnosed by flow cytometric analysis. Analysis of the BCR-ABL1 fusion-transcript in 55 cases showed its occurrence in only 2 cases, where one case with the B-ALL was characterized with e1a2 subtype and a other case with AML was characterized with the e13a2 subtype.
Conclusion. The BCR-ABL1 fusion transcript in acute-leukemia cases was found in 3.64% (2/55) of cases. The diagnosis of BCR-ABL1 fusion transcript in acute-leukemia cases is important for its poor prognosis, as well as calls for the use of ABL tyrosine kinase inhibitors. The diagnosis of BCR-ABL1 fusion-transcript in acute leukemia cases in a tertiary health care facility will be helpful for better treatment of patients in the study area.
Downloads
References
GLOBOCAN, 2022 https://gco.iarc.who.int/media/globocan/factsheets/populations/900-world-fact-sheet.pdf. Accessed September 3, 2024.
Du M, Chen W, Liu K, et al. The Global Burden of Leukemia and Its Attributable Factors in 204 Countries and Territories: Findings from the Global Burden of Disease 2019 Study and Projections to 2030. J Oncol. 2022;2022:1612702. doi:10.1155/2022/1612702
Kumar L. Chronic myelogenous leukaemia (CML): an update. Natl Med J India. 2006;19(5):255-263.
Ahirwar R, Nigam RK, Parmar D. A study of leukemias Profile in central India. Tropical Journal of Pathology and Microbiology. 2018;4(2):181-187. doi:10.17511/jopm.2018.i02.12
Carter BZ, Mak DH, Cortes J, Andreeff M. The elusive chronic myeloid leukemia stem cell: does it matter and how do we eliminate it? Semin Hematol. 2010;47(4):362-370. doi:10.1053/j.seminhematol.2010.06.006
Yao J, Douer D, Wang L, Arcila ME, Nafa K, Chiu A. A case of acute myeloid leukemia with e6a2 BCR-ABL fusion transcript acquired after progressing from chronic myelomonocytic leukemia. Leuk Res Rep. 2017;7:17-19. doi:10.1016/j.lrr.2017.01.003
Sheets JW, Eulitt P, He R, et al. Philadelphia Chromosome-positive Acute Myeloid Leukemia With e1a3 BCR-ABL1 Fusion Transcript. Hemasphere. 2020;4(6):e484. doi:10.1097/HS9.0000000000000484
Soupir CP, Vergilio JA, Dal Cin P, et al. Philadelphia chromosome-positive acute myeloid leukemia: a rare aggressive leukemia with clinicopathologic features distinct from chronic myeloid leukemia in myeloid blast crisis. Am J Clin Pathol. 2007;127(4):642-650. doi:10.1309/B4NVER1AJJ84CTUU
Loknatha D, Rao SA, Lokesh KN, Babu KG, Suresh Babu MC, Lakshmaiah KC. A case series of patients with de novo Philadelphia-positive acute myeloid leukemia at a tertiary care center in South India - clinical profile, outcomes, and review of literature. Journal of Applied Hematology 2016;7(2):66-69. doi:10.4103/1658-5127.186326
Mondal BC, Bandyopadhyaya A, Majumdar S, et al. Molecular profiling of chronic myeloid leukemia in eastern India. Am J Hematol 2006;81:845-849. doi:10.1002/ajh.20682
Hasan SK, Sazawal S, Kumar B, et al. Childhood CML in India: b2a2 transcript is more common than b3a2. Cancer Genet Cytogenet. 2006;169(1):76-77. doi:10.1016/j.cancergencyto.2006.01.015
Polampalli S, Choughule A, Negi N, et al. Analysis and comparison of clinicohematological parameters and molecular and cytogenetic response of two Bcr/Abl fusion transcripts. Genet Mol Res. 2008;7(4):1138-1149. doi:10.4238/vol7-4gmr485.
Sharma P, Kumar L, Mohanty S, Kochupillai V. Response to Imatinib mesylate in chronic myeloid leukemia patients with variant BCR-ABL fusion transcripts. Ann Hematol. 2010;89(3):241-247. doi:10.1007/s00277-009-0822-7
Anand MS, Varma N, Varma S, Rana KS, Malhotra P. Cytogenetic & molecular analyses in adult chronic myelogenous leukaemia patients in north India. Indian J Med Res. 2012;135(1):42-48. doi:10.4103/0971-5916.93423
Gupta DG, Varma N, Naseem S, et al. Characterization of immunophenotypic aberrancies with respect to common fusion transcripts in B-Cell precursor acute lymphoblastic leukemia: A report of 986 Indian patients. Turk J Haematol. 2022;39:1-12 doi:10.4274/tjh.galenos.2021.2021.0326
Azad NA, Shah ZA, Pandith AA, et al. Prognostic Implication of BCR-ABL Fusion Transcript Variants in Chronic Myeloid Leukemia (CML) Treated with Imatinib. A First of Its Kind Study on CML Patients of Kashmir. Asian Pac J Cancer Prev. 2018;19(6):1479-1485. doi:10.22034/APJCP.2018.19.6.1479
Li Y, Zhang Y, Meng X, et al. Chronic myeloid leukemia with two rare fusion gene transcripts of atypical BCR::ABL: A case report and literature review. Medicine (Baltimore). 2024;103(3):e36728. doi:10.1097/MD.0000000000036728.
Massimino M, Stella S, Tirrò E, et al. Rapid decline of Philadelphia-positive metaphases after nilotinib treatment in a CML patient expressing a rare e14a3 BCR-ABL1 fusion transcript: A case report. Oncol Lett. 2019;18(3):2648-2653. doi:10.3892/ol.2019.10558.
Sazawal S, Chhikara S, Singh K, et al. Distribution of common BCR-ABL fusion transcripts and their impact on treatment response in Imatinib treated CML patients: A study from India. Indian J Pathol Microbiol. 2019;62(2):256-260. doi:10.4103/IJPM.IJPM_726_17.
Chisti MM, Sanders DS. Chronic Myeloid Leukemia with b3a3 (e14a3) Fusion: A Rare BCR/ABL Rearrangement Presenting with Thrombocytosis - Does MTHFR Polymorphism Matter. Case Rep Oncol. 2018;11(2):485-492. doi:10.1159/000490697
Duan MH, Li H, Cai H. A rare e13a3 (b2a3) BCR-ABL1 fusion transcript with normal karyotype in chronic myeloid leukemia: The challenges in diagnosis and monitoring minimal residual disease (MRD). Leuk Res. 2017;59:8-11. doi:10.1016/j.leukres.2017.05.009
Hu LH, Pu LF, Yang DD, et al. How to detect the rare BCR-ABL (e14a3) transcript: A case report and literature review. Oncol Lett. 2017;14(5):5619-5623. doi:10.3892/ol.2017.6847
Chissoe SL, Bodenteich A, Wang YF, et al. Sequence and analysis of the human ABL gene, the BCR gene, and regions involved in the Philadelphia chromosomal translocation. Genomics. 1995;27(1):67-82. doi:10.1006/geno.1995.1008.
Takeuchi A, Kondo T, Tasaka T, et al. Successful treatment with ABL tyrosine kinase inhibitor for patients with acute myeloid leukemia with BCR-ABL1. Leuk Res Rep. 2022;17:100309. doi:10.1016/j.lrr.2020.100233
Low SK, Nanua S, Patel M, Renteria AS. AML with BCR-ABL1 Fusion treated with Imatinib, a Hypomethylating Agent and Venetoclax. Leuk Res Rep. 2022;17:100333. doi:10.1016/j.lrr.2022.100333
Piedimonte M, Ottone T, Alfonso V, et al. A rare BCR-ABL1 transcript in Philadelphia-positive acute myeloid leukemia: case report and literature review. BMC Cancer. 2019;19(1):50. doi:10.1186/s12885-019-5265-5
da Silva FB, Machado-Neto JA, Koury LCA, et al. Case Report Acute myeloid leukemia with e1a2 BCR-ABL1 fusion gene: two cases with peculiar molecular and clinical presentations. Rev Bras Hematol Hemoter. 2017;39(4):379-384. doi:10.1016/j.bjhh.2017.07.001
Shin SY, Cho JH, Kim HJ, Jang JH, Lee ST, Kim SH. Two cases of acute lymphoblastic leukemia with an e1a3 BCR-ABL1 fusion transcript. Ann Lab Med. 2015;35(1):159-161. Erratum in: Ann Lab Med. 2015;35(4):477. doi:10.3343/alm.2015.35.1.159
Deshpande PA, Srivastava VM, Mani S, et al. Atypical BCR-ABL1 fusion transcripts in adult B-acute lymphoblastic leukemia, including a novel fusion transcript-e8a1. Leuk Lymphoma. 2016;57(10):2481-2484. doi:10.3109/10428194.2016.1151512.
Chen Z. The e1a3 BCR-ABL1 fusion transcript in Philadelphia chromosome-positive acute lymphoblastic leukaemia: a case report. Hematology. 2023;28(1):2186040. doi:10.1080/16078454.2023.2186040
Jaso J, Thomas DA, Cunningham K, et al. Prognostic significance of immunophenotypic and karyotypic features of Philadelphia positive B-lymphoblastic leukemia in the era of tyrosine kinase inhibitors. Cancer. 2011;117(17):4009-4017. doi:10.1002/cncr.25978
Gleissner B, Gökbuget N, Bartram CR, et al. German Multicenter Trials of Adult Acute Lymphoblastic Leukemia Study Group. Leading prognostic relevance of the BCR-ABL translocation in adult acute B-lineage lymphoblastic leukemia: a prospective study of the German Multicenter Trial Group and confirmed polymerase chain reaction analysis. Blood. 2002;99(5):1536-1543. doi:10.1182/blood.v99.5.1536
Talpaz M, Shah NP, Kantarjian H, et al. Dasatinib in imatinib-resistant Philadelphia chromosome-positive leukemias. N Engl J Med. 2006;354(24):2531-2541. doi:10.1056/NEJMoa055229
Pfeifer H, Cazzaniga G, van der Velden VHJ, et al. Standardisation and consensus guidelines for minimal residual disease assessment in Philadelphia-positive acute lymphoblastic leukemia (Ph + ALL) by real-time quantitative reverse transcriptase PCR of e1a2 BCR-ABL1. Leukemia. 2019;33(8):1910-1922. doi:10.1038/s41375-019-0413-0. Erratum in: Leukemia. 2020;34(7):1970.
Leoni V, Biondi A. Tyrosine kinase inhibitors in BCR-ABL positive acute lymphoblastic leukemia. Haematologica. 2015;100(3):295-299. doi:10.3324/haematol.2015.124016
Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127(20):2391-2405. doi:10.1182/blood-2016-03-643544
Döhner H, Wei AH, Appelbaum FR, et al. Diagnosis and management of AML in adults: 2022 recommendations from an international expert panel on behalf of the ELN. Blood. 2022;140(12):1345-1377. doi:10.1182/blood.2022016867
Pollyea DA, Altman JK, Assi R, et al. Acute Myeloid Leukemia, Version 3.2023, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2023;21(5):503-513. doi:10.6004/jnccn.2023.0025
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2025 European Journal of Clinical and Experimental Medicine

This work is licensed under a Creative Commons Attribution 4.0 International License.
Our open access policy is in accordance with the Budapest Open Access Initiative (BOAI) definition: this means that articles have free availability on the public Internet, permitting any users to read, download, copy, distribute, print, search, or link to the full texts of these articles, crawl them for indexing, pass them as data to software, or use them for any other lawful purpose, without financial, legal, or technical barriers other than those inseparable from having access to the Internet itself.
All articles are published with free open access under the CC-BY Creative Commons attribution license (the current version is CC-BY, version 4.0). If you submit your paper for publication by the Eur J Clin Exp Med, you agree to have the CC-BY license applied to your work. Under this Open Access license, you, as the author, agree that anyone may download and read the paper for free. In addition, the article may be reused and quoted provided that the original published version is cited. This facilitates freedom in re-use and also ensures that Eur J Clin Exp Med content can be mined without barriers for the research needs.




