Abstract
The present study describes a 7-year-old male child who had attended the Pediatric Oncology Clinic of the Regional Cancer Centre, Thiruvananthapuram, Kerala, India, and was pathologically confirmed to have B-Acute Lymphoblastic Leukemia (B-ALL). Conventional cytogenetics analysis at diagnosis showed the presence of a double Philadelphia chromosome and the karyotype of the case was 47, XY, t(9;22)(q34;q11.2), + der(22)t(9;22). FISH, done as a molecular confirmation of the translocation, t(9;22)(q34;q11.2), and this case showed an additional fusion signal that confirms the presence of double Ph. As far as we are aware, this represents the initial and only occurrence of an abnormality report regarding the double Philadelphia chromosome in pediatric B-ALL within India. The double Philadelphia chromosome in B-ALL has a very poor prognosis despite aggressive treatment with chemotherapy. This study reveals the importance of conventional and molecular cytogenetic analysis in risk stratification and prognosis prediction of pediatric B-ALL. The risk stratification based on the conventional and molecular cytogenetic analysis may be taken into consideration for deciding the treatment strategy for each patient.
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Acknowledgements
The authors would like to emphasize their gratitude to the patient for their cooperation. Suraj Lathika Surendran played an important role in collecting and processing samples.
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The first author received financial support from the Council of Scientific and Industrial Research-Senior Research Fellowship, provided by the Government of India, New Delhi.
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PA carried out both conventional and molecular cytogenetic analysis and authored the manuscript. TP provided the patient sample and clinical data. AVJ conducted the pathological experiments. GP and RCV provided valuable insights during the manuscript review. TVA, JAG, MSM, and PD were responsible for reviewing the article to ensure clarity and grammatical accuracy. HS contributed to data acquisition, interpretation, and drafting of the manuscript. All authors actively participated in critically revising the manuscript and unanimously endorsed the final version.
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Padmakumar, A., Thankamony, P., Vasudevan, J.A. et al. Double Philadelphia chromosome: a rare and sole abnormality in pediatric B-acute lymphoblastic leukemia. 3 Biotech 14, 75 (2024). https://doi.org/10.1007/s13205-024-03935-6
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DOI: https://doi.org/10.1007/s13205-024-03935-6