BioProject

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. More...

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. Overall design: Copy number analysis of 4 AML cases with t(X;21) by CytoScan HD Affymetrix platform Less...