Acquired duplication of isochromosome 21's resulting in pentasomy 21 with concurrent 13q deletion in acute lymphoblastic leukemia: a rare co-occurrence
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 compl...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Discover STM Publishing Ltd
2024-02-01
|
| Series: | Journal of Biochemical and Clinical Genetics |
| Subjects: | |
| Online Access: | https://www.jbcgenetics.com/?mno=215722 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850208916828323840 |
|---|---|
| author | Suhaib Mohammad Ali Abunaser Anurita Pais Cigdem Pala Ozturk |
| author_facet | Suhaib Mohammad Ali Abunaser Anurita Pais Cigdem Pala Ozturk |
| author_sort | Suhaib Mohammad Ali Abunaser |
| collection | DOAJ |
| description | 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. [JBCGenetics 2024; 7(2.000): 098-103] |
| format | Article |
| id | doaj-art-2a57c3d0abca49e195cbc80d468d4487 |
| institution | OA Journals |
| issn | 1658-807X 1658-8088 |
| language | English |
| publishDate | 2024-02-01 |
| publisher | Discover STM Publishing Ltd |
| record_format | Article |
| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj-art-2a57c3d0abca49e195cbc80d468d44872025-08-20T02:10:08ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X1658-80882024-02-017209810310.24911/JBCGenetics.183-1723713112215722Acquired duplication of isochromosome 21's resulting in pentasomy 21 with concurrent 13q deletion in acute lymphoblastic leukemia: a rare co-occurrenceSuhaib Mohammad Ali Abunaser0Anurita Pais1Cigdem Pala Ozturk2Bahrain Oncology Centre, Busaiteen, Kingdom of Bahrain Bahrain Oncology Centre, Busaiteen, Kingdom of Bahrain Bahrain Oncology Centre, Busaiteen, Kingdom of BahrainBackground 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. [JBCGenetics 2024; 7(2.000): 098-103]https://www.jbcgenetics.com/?mno=215722derivative (21;21)(q10;q10)fluorescence in situ hybridizationfishkaryotypepentasomy 2113q deletionacute lymphoblastic leukemiacase report |
| spellingShingle | Suhaib Mohammad Ali Abunaser Anurita Pais 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 derivative (21;21)(q10;q10) fluorescence in situ hybridization fish karyotype pentasomy 21 13q deletion acute lymphoblastic leukemia case report |
| title | Acquired duplication of isochromosome 21's resulting in pentasomy 21 with concurrent 13q deletion in acute lymphoblastic leukemia: a rare co-occurrence |
| title_full | Acquired duplication of isochromosome 21's resulting in pentasomy 21 with concurrent 13q deletion in acute lymphoblastic leukemia: a rare co-occurrence |
| title_fullStr | Acquired duplication of isochromosome 21's resulting in pentasomy 21 with concurrent 13q deletion in acute lymphoblastic leukemia: a rare co-occurrence |
| title_full_unstemmed | Acquired duplication of isochromosome 21's resulting in pentasomy 21 with concurrent 13q deletion in acute lymphoblastic leukemia: a rare co-occurrence |
| title_short | Acquired duplication of isochromosome 21's resulting in pentasomy 21 with concurrent 13q deletion in acute lymphoblastic leukemia: a rare co-occurrence |
| title_sort | acquired duplication of isochromosome 21 apos s resulting in pentasomy 21 with concurrent 13q deletion in acute lymphoblastic leukemia a rare co occurrence |
| topic | derivative (21;21)(q10;q10) fluorescence in situ hybridization fish karyotype pentasomy 21 13q deletion acute lymphoblastic leukemia case report |
| url | https://www.jbcgenetics.com/?mno=215722 |
| work_keys_str_mv | AT suhaibmohammadaliabunaser acquiredduplicationofisochromosome21apossresultinginpentasomy21withconcurrent13qdeletioninacutelymphoblasticleukemiaararecooccurrence AT anuritapais acquiredduplicationofisochromosome21apossresultinginpentasomy21withconcurrent13qdeletioninacutelymphoblasticleukemiaararecooccurrence AT cigdempalaozturk acquiredduplicationofisochromosome21apossresultinginpentasomy21withconcurrent13qdeletioninacutelymphoblasticleukemiaararecooccurrence |