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A novel t(X 21) (p11.4 q22.12) translocation adds to the role of BCOR and RUNX1 in Myelodysplastic Syndromes/Acute Myeloid Leukemias

ABSTRACT: A novel t(X 21) (p11.4 q22.12) translocation adds to the role of BCOR and RUNX1 in Myelodysplastic Syndromes/Acute Myeloid Leukemias

PROVIDER: PRJNA1016298 | ENA |

REPOSITORIES: ENA

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A novel t(X;21) (p11.4;q22.12) translocation adds to the role of BCOR and RUNX1 in Myelodysplastic Syndromes/Acute Myeloid Leukemias [Gene expression analysis]

Project description: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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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]

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A novel t(X 21) (p11.4 q22.12) translocation adds to the role of BCOR and RUNX1 in Myelodysplastic Syndromes/Acute Myeloid Leukemias [Gene expression analysis]

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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]

Project description: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]

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A novel t(X;21) (p11.4;q22.12) translocation adds to the role of BCOR and RUNX1 in Myelodysplastic Syndromes/Acute Myeloid Leukemias

Project description:This SuperSeries is composed of the SubSeries listed below.

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