Elena Mavridou, Anair Graciela Lema Fernandez, Carlotta Nardelli, Valentina Pierini, Martina Quintini, Silvia Arniani, Danika Di Giacomo, Barbara Crescenzi, Caterina Matteucci, Constantina Sambani, Cristina Mecucci
In myeloid neoplasms, both fusion genes and gene mutations are well-established events identifying clinicopathological entities. In this study, we present a thus far undescribed t(X;21)(p11.4;q22.12) in five cases with myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). The translocation was isolated or accompanied by additional changes. It did not generate any fusion gene or gene deregulation by aberrant juxtaposition with regulatory sequences. Molecular analysis by targeted next-generation sequencing showed that the translocation was accompanied by at least one somatic mutation in TET2, EZH2, RUNX1, ASXL1, SRSF2, ZRSR2, DNMT3A, and NRAS genes...
April 2024: Genes, Chromosomes & Cancer