Runt-related transcription factor 1 (RUNX1) is a transcription factor critical for normal and leukemic hematopoiesis. Three main isoforms, RUNX1 i-1a, i-1b and i-1c, are produced through alternative splicing of RUNX1. Unlike i-1b and i-1c, i-1a has a Runt homology domain (RHD) but lacks the transactivation domain (TAD), and inhibits transcriptional activity of -1b by competing with higher affinity for target gene sequences. Overexpression of i-1a in cell lines inhibits terminal myeloid differentiation. The i-1a is expressed at high levels in patients (pts) with acute myeloid leukemia (AML). Mutations of RUNX1 are common in CMML and MDS, whereas incidence and clinical correlates of RUNX1 mutations in MPNs are poorly known.
Involvement of RUNX1 Pathway Is a Common Event in the Leukemic Transformation of Chronic Myeloproliferative Neoplasms (MPNs) / Paola Guglielmelli, MD PhD, Niccolò Bartalucci, PhDBSc, Elisa Contini, PhD, Giada Rotunno, PhD, Annalisa Pacilli, PhD, Simone Romagnoli, BSc, Lara Mannelli, MD, Francesco Mannelli, MD, Giacomo Coltro, MD, Alessandro Pancrazzi, PhD, Valentina Ariu, BSci, Sara Fiaccabrino, Roberto Semeraro, Alberto Magi, PhD, Carmela Mannarelli, PhD, Francesca Gesullo, BSci, Chiara Paoli, PhD, Alessandro M. Vannucchi, MD. - In: BLOOD. - ISSN 0006-4971. - ELETTRONICO. - (2019), pp. 0-0.
Involvement of RUNX1 Pathway Is a Common Event in the Leukemic Transformation of Chronic Myeloproliferative Neoplasms (MPNs)
Paola Guglielmelli;Niccolò Bartalucci;Elisa Contini;Giada Rotunno;Annalisa Pacilli;Simone Romagnoli;Lara Mannelli;Francesco Mannelli;Giacomo Coltro;Alessandro Pancrazzi;Valentina Ariu;Sara Fiaccabrino;Roberto Semeraro;Alberto Magi;Carmela Mannarelli;Francesca Gesullo;Alessandro M. Vannucchi;
2019
Abstract
Runt-related transcription factor 1 (RUNX1) is a transcription factor critical for normal and leukemic hematopoiesis. Three main isoforms, RUNX1 i-1a, i-1b and i-1c, are produced through alternative splicing of RUNX1. Unlike i-1b and i-1c, i-1a has a Runt homology domain (RHD) but lacks the transactivation domain (TAD), and inhibits transcriptional activity of -1b by competing with higher affinity for target gene sequences. Overexpression of i-1a in cell lines inhibits terminal myeloid differentiation. The i-1a is expressed at high levels in patients (pts) with acute myeloid leukemia (AML). Mutations of RUNX1 are common in CMML and MDS, whereas incidence and clinical correlates of RUNX1 mutations in MPNs are poorly known.
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