2026-07-22T09:51:03Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/261592025-12-18T12:55:44Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597

00925njm 22002777a 4500 dc Rio-Machín, Ana author Menezes, Juliane author Maiques-Diaz, Alba author Agirre, Xabier author Ferreira, Bibiana I author Acquadro, Francesco author Rodriguez Perales, Sandra author Juaristi, Karmele A author Alvarez, Sara author Cigudosa, Juan C author 2012-04 The disruption of RUNX1 function is one of the main mechanisms of disease observed in hematopoietic malignancies and the description of novel genetic events that lead to a RUNX1 loss of function has been accelerated with the development of genomic technologies. Here we describe the molecular characterization of a new t(4;21)(q21;q22) in a de novo myelodysplastic syndrome that resulted in the deletion of the RUNX1 gene. We demonstrated by quantitative real-time RT-PCR an almost complete depletion of the expression of the RUNX1 gene in our t(4;21) case compared with CD34(+) cells that was independent of mutation or DNA methylation. More importantly, we explored and confirmed the possibility that this abrogation also prevented transactivation of RUNX1 target genes, perhaps confirming the genetic origin of the thrombocytopenia and the myelodysplastic features observed in our patient, and certainly mimicking what has been observed in the presence of the RUNX1/ETO fusion protein. Haematologica . 2012 Apr;97(4):534-7 HAEMATOLOGICA 22102704 https://hdl.handle.net/20.500.12105/26159 AML1 t(4;21)(q21;q22 RUNX1 haploinsufficiency megakariocytic lineage maturation Abrogation of RUNX1 gene expression in de novo myelodysplastic syndrome with t(4;21)(q21;q22).