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| Status |
Public on Apr 30, 2024 |
| Title |
A novel t(X;21) (p11.4;q22.12) translocation adds to the role of BCOR and RUNX1 in Myelodysplastic Syndromes/Acute Myeloid Leukemias [Copy number analysis] |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
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| Summary |
In this study we present a thus far undescribed, reciprocal, unbalanced chromosomal translocation between the long arm of chromosome 21 and the short arm of chromosome X, t(X;21)(p11.4;q22.12), in five cases with Myelodysplastic Syndromes and Acute Myeloid Leukemias (MDS/AML). The translocation was isolated or accompanied by one additional change and is not generating a fusion gene. Deletion of RUNX1 at chromosome 21 and of BCOR at chromosome X was shown by Fluorescence In Situ Hybridization (FISH) and Single Nucleotide Polymorphism array (SNPa) analysis. BCOR was downregulated in all cases compared to the normal counterpart, as well as to normal karyotype AMLs (NK-AML). By contrast, RUNX1 expression was not altered, suggesting a compensatory effect of the remaining allele. Molecular analysis by Next Generation Sequencing showed that the translocation was accompanied by at least one somatic mutation at TET2, EZH2, RUNX1, DNMT3A and NRAS genes.
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| Overall design |
Copy number analysis of 4 AML cases with t(X;21) by CytoScan HD Affymetrix platform
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| Contributor(s) |
Mecucci C |
| Citation missing |
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| Submission date |
Sep 13, 2023 |
| Last update date |
Apr 30, 2024 |
| Contact name |
Cristina Mecucci |
| E-mail(s) |
cristina.mecucci@unipg.it
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| Phone |
+39 075 5783808
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| Organization name |
University of Perugia
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| Department |
Department of Medicine, Hematology and Bone Marrow Transplantation Unit
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| Lab |
Laboratory of Cytogenetics and Molecular Genetics
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| Street address |
Piazzale Menghini n.9
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| City |
Perugia |
| ZIP/Postal code |
06132 |
| Country |
Italy |
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| Platforms (1) |
| GPL16131 |
[CytoScanHD_Array] Affymetrix CytoScan HD Array |
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| Samples (4)
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| This SubSeries is part of SuperSeries: |
| GSE243056 |
A novel t(X;21) (p11.4;q22.12) translocation adds to the role of BCOR and RUNX1 in Myelodysplastic Syndromes/Acute Myeloid Leukemias |
|
| Relations |
| BioProject |
PRJNA1016303 |
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