Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Mar;14(3):75.
doi: 10.1007/s13205-024-03935-6. Epub 2024 Feb 14.

Double Philadelphia chromosome: a rare and sole abnormality in pediatric B-acute lymphoblastic leukemia

Amritha Padmakumar  1 , Priyakumari Thankamony  2 , Jayasudha Arundhathi Vasudevan  3 , Preethi Gopinath  1 , Vineetha Radhakrishnan Chandraprabha  1 , Akhila Raj Thampirajan Vimala Devi  1 , Geetha Raj John Anitha  1 , Mahitha Mohanan Sreelatha  1 , Devipriya Padmakumar  1 , Hariharan Sreedharan  1
Affiliations

Double Philadelphia chromosome: a rare and sole abnormality in pediatric B-acute lymphoblastic leukemia

Amritha Padmakumar et al. 3 Biotech. 2024 Mar.

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.

Keywords: Acute  Lymphoblastic  Leukemia; Cytogenetics; Double Philadelphia chromosome; Fluorescence in situ hybridization.

PubMed Disclaimer

Conflict of interest statement

Conflict of interestThe authors affirm that there were no potential conflicts of interest.

Figures

Fig. 1
Fig. 1
Bone marrow aspirate showing blast cells (Giemsa, 1000X). Approximately 90% of the observed cells in the bone marrow aspirate display distinct characteristics, including limited cytoplasm, nuclei that are round to oval in shape, immature chromatin patterns, and noticeable nucleoli
Fig. 2
Fig. 2
GTG banded karyotype of the male pediatric B-ALL patient with 47, XY,t(9;22)(q34;q11.2), + der(22)t(9;22)
Fig. 3
Fig. 3
A Interphase nuclei. B Metaphase spread; showing the presence of BCR–ABL fusion gene: one red signal on chromosome 9 (ABL GENE), one green signal on chromosome 22 (BCR GENE), and two yellow signals (BCR–ABL OR ABL-BCR) represent the BCR–ABL fusion gene, and an additional BCR–ABL fusion signal confirms the presence of double Philadelphia chromosome
See this image and copyright information in PMC

References

    1. Ahmed IO, Ochogwu LO, Owojuyigbe TO, Akinola NO, Durosinmi MA. Philadelphia chromosome-positive B-cell acute lymphoblastic leukemia with e1a3 BCR-ABL1 transcript in a Nigerian with sickle cell anemia: a case report. J Med Case Rep. 2021;15(1):1–8. doi: 10.1186/s13256-021-03060-5. - DOI - PMC - PubMed
    1. Aricò M, Valsecchi MG, Camitta B, Schrappe M, Chessells J, Baruchel A, et al. Outcome of treatment in children with Philadelphia chromosome–positive acute lymphoblastic leukemia. N Engl J Med. 2000;342(14):998–1006. doi: 10.1056/NEJM200004063421402. - DOI - PubMed
    1. Armstrong SA, Look AT. Molecular genetics of acute lymphoblastic leukemia. J Clin Oncol. 2005;23(26):6306–6315. doi: 10.1200/JCO.2005.05.047. - DOI - PubMed
    1. Bhatia S, Landier W, Shangguan M, Hageman L, Schaible AN, Carter AR, et al. Nonadherence to oral mercaptopurine and risk of relapse in Hispanic and non-Hispanic white children with acute lymphoblastic leukemia: a report from the children's oncology group. J Clin Oncol. 2012;30(17):2094. doi: 10.1200/JCO.2011.38.9924. - DOI - PMC - PubMed
    1. Campos MGV, Chauffaille MLLF, Rodrigues CA, Krum EA, Yamamoto M. A rare case of Acute Lymphocytic Leukemia (ALL) presenting with double Philadelphia chromosome: relapse or secondary leukemia? Genet Mol Biol. 2003;26:249–251. doi: 10.1590/S1415-47572003000300006. - DOI

LinkOut - more resources