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CC BY 4.0 · Indian J Med Paediatr Oncol 2025; 46(01): 109-113
DOI: 10.1055/s-0043-1770094
Case Report with Review of Literature

B-Lymphoblastic Leukemia Presenting with an Isoderivative Philadelphia Chromosome—A Rare Case Report and Review of Literature

Authors

  • Neelum Mansoor 

    1   Department of Hematology & Blood Center, Indus Hospital & Health Network, Karachi, Pakistan

  • Sidra Maqsood

    2   Offices of Research, Innovation and Commercialization, Indus Hospital & Health Network, Karachi, Pakistan

  • Syeda Ambareen Zehra

    1   Department of Hematology & Blood Center, Indus Hospital & Health Network, Karachi, Pakistan

  • Imad Bakri

    3   Zilgene Clinical Lab Consulting, Atoko Way, San Antonio, Texas, United States

Funding None.
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Abstract

The Philadelphia chromosome is seen in 5% of pediatric and 25 to 50% of adult cases of acute lymphoblastic leukemia (ALL). It is linked to aggressive illness with a dismal prognosis. Additional chromosomal abnormalities are not prevalent with translocation 9;22; nevertheless, isochromosome derivative [ider(22)] with this translocation is rarely recorded in the literature. This is the third instance of ider(22) in pediatric B-cell acute lymphoblastic leukemia (B-ALL). Bone marrow chromosome analysis by G-banding showed 46,XX,t(9;22)(q34;q11.2)[6]/46,XX,ider(22)(q10)t(9;22)(q34;q11.2)[14]. Fluorescence in situ hybridization (FISH) analysis for BCR::ABL1 fusion showed 40% of interphase cells with two and 35% with three fusion signals that were in concordance with the karyotype. The patient was categorized as National Cancer Institute (NCI) high-risk (HR) and started with HR chemotherapy according to Children's Oncology Group (COG) protocol. Postinduction remission assessment by flow cytometry showed 2.6% measurable residual disease. The case highlights significance of cytogenetic analysis despite availability of advanced techniques like FISH. The prognostic significance of concurrent ider22(q10) with t(9;22) is yet to be explored.

Keywords

acute lymphoblastic leukemia - immunophenotyping - Philadelphia chromosome - cytogenetic analysis - measurable residual disease

Authors' Contributions

Neelum Mansoor is involved in the study of concept and design. Syeda Ambareen Zehra did the acquisition of data. Sidra Maqsood drafted the manuscript. Imad Bakri was involved in the critical revision of the manuscript for important intellectual content. Sidra Maqsood and Syeda Ambareen Zehra are involved in administrative, technical, and material support. Neelum Mansoor supervised the study.


Patient Consent

Written informed consent was obtained from the patient to publish this report in accordance with the journal's patient consent policy.




Publication History

Article published online:
05 July 2023

© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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