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Case Report
Online Published: 12 Jan 2025
 


Acquired duplication of isochromosome 21’s resulting in pentasomy 21 with concurrent 13q deletion in acute lymphoblastic leukemia: a rare co-occurrence

Suhaib Mohammad Ali Abunaser, Anurita Pais, Cigdem Pala Ozturk.


Abstract
Background
Pentasomy involving duplication of isochromosome 21;der(21;21)(q10;q10) is a rare cytogenetic abnormality linked primarily to acute lymphoblastic leukemia (ALL) and less frequently to acute myeloid leukemia (AML) or myelodysplastic syndromes (MDS). These abnormalities often occur in complex karyotypes and might co-occur with t(12;21).
Case Presentation
A unique case of ALL was reported in a 14-year-old male presented with pentasomy 21 from duplicated der(21;21)(q10;q10) along with deletion 13q as primary abnormalities. Bone marrow and flow cytometry showed 90% B-lymphoid blast cells. Chromosome analysis and Fluorescence in situ hybridization (FISH) revealed interstitial deletion 13q and der(21;21)(q10;q10) duplication, resulting in five RUNX1 gene signals. While duplicated isochromosome/isodicentric chromosome 21 was documented in isolated cases of ALL and AML, this was the first report of this abnormality co-existing with deletion 13q in the present case of ALL, suggesting a unique contribution to disease pathogenesis. The amplification of 21q genes, including RUNX1, ETS, and ERG, might influence pathogenesis and warrants further investigation.
Conclusion
The co-occurrence of Pentasomy 21 and 13q deletions represented a novel finding, prompting investigations into their combined impact on clinical outcomes. This unique cytogenetic combination highlighted the need for further studies to understand its impact on ALL pathophysiology.

Key words: Derivative (21;21)(q10;q10), Fluorescence in situ hybridization, FISH, Karyotype, Pentasomy 21, 13q deletion, Acute lymphoblastic leukemia, Case report


 
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Pubmed Style

Abunaser SMA, Pais A, Ozturk CP. Acquired duplication of isochromosome 21’s resulting in pentasomy 21 with concurrent 13q deletion in acute lymphoblastic leukemia: a rare co-occurrence. JBCGenetics. Online First: 12 Jan, 2025. doi:10.24911/JBCGenetics.183-1723713112

Web Style

Abunaser SMA, Pais A, Ozturk CP. Acquired duplication of isochromosome 21’s resulting in pentasomy 21 with concurrent 13q deletion in acute lymphoblastic leukemia: a rare co-occurrence. https://www.jbcgenetics.com/?mno=215722 [Access: January 12, 2025]. doi:10.24911/JBCGenetics.183-1723713112

AMA (American Medical Association) Style

Abunaser SMA, Pais A, Ozturk CP. Acquired duplication of isochromosome 21’s resulting in pentasomy 21 with concurrent 13q deletion in acute lymphoblastic leukemia: a rare co-occurrence. JBCGenetics. Online First: 12 Jan, 2025. doi:10.24911/JBCGenetics.183-1723713112


Vancouver/ICMJE Style

Abunaser SMA, Pais A, Ozturk CP. Acquired duplication of isochromosome 21’s resulting in pentasomy 21 with concurrent 13q deletion in acute lymphoblastic leukemia: a rare co-occurrence. JBCGenetics, [cited January 12, 2025]; Online First: 12 Jan, 2025. doi:10.24911/JBCGenetics.183-1723713112


Harvard Style

Abunaser, S. M. A., Pais, . A. & Ozturk, . C. P. (2024) Acquired duplication of isochromosome 21’s resulting in pentasomy 21 with concurrent 13q deletion in acute lymphoblastic leukemia: a rare co-occurrence. JBCGenetics, Online First: 12 Jan, 2025. doi:10.24911/JBCGenetics.183-1723713112


Turabian Style

Abunaser, Suhaib Mohammad Ali, Anurita Pais, and Cigdem Pala Ozturk. 2024. Acquired duplication of isochromosome 21’s resulting in pentasomy 21 with concurrent 13q deletion in acute lymphoblastic leukemia: a rare co-occurrence. Journal of Biochemical and Clinical Genetics, Online First: 12 Jan, 2025. doi:10.24911/JBCGenetics.183-1723713112


Chicago Style

Abunaser, Suhaib Mohammad Ali, Anurita Pais, and Cigdem Pala Ozturk. "Acquired duplication of isochromosome 21’s resulting in pentasomy 21 with concurrent 13q deletion in acute lymphoblastic leukemia: a rare co-occurrence." Journal of Biochemical and Clinical Genetics Online First: 12 Jan, 2025. doi:10.24911/JBCGenetics.183-1723713112


MLA (The Modern Language Association) Style

Abunaser, Suhaib Mohammad Ali, Anurita Pais, and Cigdem Pala Ozturk. "Acquired duplication of isochromosome 21’s resulting in pentasomy 21 with concurrent 13q deletion in acute lymphoblastic leukemia: a rare co-occurrence." Journal of Biochemical and Clinical Genetics Online First: 12 Jan, 2025. Web. 12 Jan 2025 doi:10.24911/JBCGenetics.183-1723713112


APA (American Psychological Association) Style

Abunaser, S. M. A., Pais, . A. & Ozturk, . C. P. (2024) Acquired duplication of isochromosome 21’s resulting in pentasomy 21 with concurrent 13q deletion in acute lymphoblastic leukemia: a rare co-occurrence. Journal of Biochemical and Clinical Genetics, Online First: 12 Jan, 2025. doi:10.24911/JBCGenetics.183-1723713112




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