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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

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
› Author Affiliations 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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  • References

  • 1 Kang ZJ, Liu YF, Xu LZ. et al. The Philadelphia chromosome in leukemogenesis. Chin J Cancer 2016; 35 (01) 48
    CrossrefPubMedSearch in Google Scholar
  • 2 Koo HH. Philadelphia chromosome-positive acute lymphoblastic leukemia in childhood. Korean J Pediatr 2011; 54 (03) 106-110
    CrossrefPubMedSearch in Google Scholar
  • 3 Tang YL, Raja Sabudin RZ, Leong CF. et al. Double Philadelphia chromosome-positive B acute lymphoblastic leukaemia in an elderly patient. Malays J Pathol 2015; 37 (03) 275-279
    PubMedSearch in Google Scholar
  • 4 Siddappa S, Hassan SA, Lingappa KB. et al. Double Philadelphia chromosomes- a rare, yet an important cytogenetic phenomenon of prognostic significance in de novo acute lymphoblastic leukemia. Indian J Hematol Blood Transfus 2022; 38 (04) 739-744
    CrossrefPubMedSearch in Google Scholar
  • 5 Rowe JM, Buck G, Burnett AK. et al; ECOG, MRC/NCRI Adult Leukemia Working Party. Induction therapy for adults with acute lymphoblastic leukemia: results of more than 1500 patients from the international ALL trial: MRC UKALL XII/ECOG E2993. Blood 2005; 106 (12) 3760-3767
    CrossrefPubMedSearch in Google Scholar
  • 6 Ottmann OG, Wassmann B. Treatment of Philadelphia chromosome-positive acute lymphoblastic leukemia. Hematology (Am Soc Hematol Educ Program) 2005; 2005 (01) 118-122
    CrossrefPubMedSearch in Google Scholar
  • 7 Forestier E, Johansson B, Gustafsson G. et al; For the Nordic Society of Paediatric Haematology and Oncology (NOPHO) Leukaemia Cytogenetic Study Group. Prognostic impact of karyotypic findings in childhood acute lymphoblastic leukaemia: a Nordic series comparing two treatment periods. Br J Haematol 2000; 110 (01) 147-153
    CrossrefPubMedSearch in Google Scholar
  • 8 Nordgren A, Heyman M, Sahlén S. et al. Spectral karyotyping and interphase FISH reveal abnormalities not detected by conventional G-banding. Implications for treatment stratification of childhood acute lymphoblastic leukaemia: detailed analysis of 70 cases. Eur J Haematol 2002; 68 (01) 31-41
    CrossrefPubMedSearch in Google Scholar
  • 9 Achandira UM, Pathare AV, Kindi SA, Dennison D, Yahyaee SA. Isochromosome 9q as a sole anomaly in an Omani boy with acute lymphoblastic leukaemia. BMJ Case Rep 2009; 2009: bcr09.2008.0890
    CrossrefPubMedSearch in Google Scholar
  • 10 Huh J, Chung W. [A case of acute lymphoblastic leukemia with ider(9)(q10)t(9;22)(q34;q11.2).]. Korean J Lab Med 2006; 26 (03) 223-226
    PubMedSearch in Google Scholar
  • 11 Kansal R, Deeb G, Barcos M. et al. Precursor B lymphoblastic leukemia with surface light chain immunoglobulin restriction: a report of 15 patients. Am J Clin Pathol 2004; 121 (04) 512-525
    CrossrefPubMedSearch in Google Scholar
  • 12 Preiss BS, Kerndrup GB, Pedersen RK, Hasle H, Pallisgaard N. Lymphoma-Leukemia Study Group of the Region of Southern Denmark. Contribution of multiparameter genetic analysis to the detection of genetic alterations in hematologic neoplasia. An evaluation of combining G-band analysis, spectral karyotyping, and multiplex reverse-transcription polymerase chain reaction (multiplex RT-PCR). Cancer Genet Cytogenet 2006; 165 (01) 1-8
    CrossrefPubMedSearch in Google Scholar
  • 13 Yamamoto K, Nagata K, Morita Y, Inagaki K, Hamaguchi H. Isodicentric Philadelphia chromosome in acute lymphoblastic leukemia with der(7;12)(q10;q10). Leuk Res 2007; 31 (05) 713-718
    CrossrefPubMedSearch in Google Scholar
  • 14 Meza-Espinoza JP, Romo Martínez EJ, Aguilar López L, Picos Cárdenas VJ, Magaña Torres MT, González García JR. B-cell acute lymphoblastic leukemia with t(9;22)(q34;q11) translocation and clonal divergence through ider(22) chromosome and t(13;17)(q14;q25) translocation. Ann Lab Med 2016; 36 (02) 185-187
    CrossrefPubMedSearch in Google Scholar
  • 15 Mitelman F, Johansson B, Mertens F. Eds. Mitelman database of chromosome aberrations and gene fusions in cancer. (Updated on Nov 19, 2014). Accessed May 31, 2023 at: http://cgap.nci.nih.gov/Chromosomes/Mitelman
  • 16 Ramachandran KC, Narayanan G, Nair SG, Thambi SM, Kamala LH, Gopinath P, Sreedharan H. Isodicentric Philadelphia Chromosome: A Rare Chromosomal Aberration in Imatinib-Resistant Chronic Myelogenous Leukemia Patients-Case Report with Review of the Literature. Cytogenetic and Genome Research 2016; Jan 1;150(3-4): 273-280
    CrossrefPubMedSearch in Google Scholar