2026-04-26T23:12:03Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/261492025-12-18T12:53:37Zcom_20.500.12105_2273com_20.500.12105_2202col_20.500.12105_19571

00925njm 22002777a 4500 dc Rodriguez Perales, Sandra author Torres-Ruiz, Raul author Suela, J author Acquadro, F author Martin, M C author Yebra, E author Ramirez, J C author Alvarez, S author Cigudosa, J C author 2016-01-07 We have identified a new t(1;21)(p32;q22) chromosomal translocation in a MDS/AML patient that results in expression of an aberrant C-terminally truncated RUNX1 protein lacking several regulatory domains. As similar truncated RUNX1 proteins are generated by genetic aberrations including chromosomal translocations and point mutations, we used the t(1;21)(p32;q22) chromosomal translocation as a model to explore whether C-terminally truncated RUNX1 proteins trigger effects similar to those induced by well-characterized leukemogenic RUNX1 fusion genes. In vitro analysis of transduced human hematopoietic/progenitor stem cells showed that truncated RUNX1 proteins increase proliferation and self-renewal and disrupt the differentiation program by interfering with RUNX1b. These effects are similar to but milder than those induced by the RUNX1/ETO fusion protein. GSEA analysis confirmed similar altered gene expression patterns in the truncated RUNX1 and RUNX1/ETO models, with both models showing alterations in genes involved in self-renewal and leukemogenesis, including homeobox genes, primitive erythroid genes and leukemogenic transcription factors. We propose that C-terminally truncated RUNX1 proteins can contribute to leukemogenesis in a similar way to RUNX1 fusion genes but through a milder phenotype. Oncogene . 2016 Jan 7;35(1):125-34 https://hdl.handle.net/20.500.12105/26149 25798834 Oncogene ACUTE MYELOID-LEUKEMIA ACUTE MYELOGENOUS LEUKEMIA ACUTE LYMPHOBLASTIC-LEUKEMIA INCREASED FLT3 EXPRESSION POINT MUTATIONS MYELODYSPLASTIC SYNDROME STEM-CELLS TRANSCRIPTIONAL ACTIVATION AML1/PEBP2-ALPHA-B GENE ACQUIRED TRISOMY-21 Truncated RUNX1 protein generated by a novel t(1;21)(p32;q22) chromosomal translocation impairs the proliferation and differentiation of human hematopoietic progenitors.