EPIGENETIC MUTATIONS IN PRIMARY MYELOFIBROSIS (PMF)

OJEDA MARA JORGELINA; MARONI, GEORGINA; PRATTI ARIANNA FLAVIA; BRAGOS IRMA MARGARITA; CARBONELL MARÍA MAGDALENA; CALVO, KARINA LUCRECIA; WILLIAMS, GLADIS MARCELA

ROSARIO

Congreso; XXI Congress-XXXIX Annual Meeting of Rosario Biology Society; 2020

EPIGENETIC MUTATIONS IN PRIMARY MYELOFIBROSIS (PMF)Ojeda M1,2, Bragós I1, Calvo K1 , Maroni, G1, Carbonell M1, Williams G1, Pratti A1.1Rosario, Argentina. Facultad de Ciencias Bioquímicas y Farmacéuticas. Cátedra de Hematología. Universidad Nacional de Rosario.2IFISE-CONICET. E-mail: mojeda@fbioyf.unr.edu.arSomatic mutations in ASXL1 are the most frequent mutations in epigenetic regulators after TET2 in MPN; they are mainly found inPMF and are associated with poor prognosis. The aim of the study was to detect mutations in ASXL1 and determine its correlationwith the mutational status of JAK2, CALR, and MPL in our population of patients with PMF. We studied 50 patients with PMF, ofwhich 34 were JAK2V617F positive, 8 CALR positive and 8 triple-negative (TN), that is, patients negative for JAK2, CALR, andMPL. To detect mutations in Exon 12 of the ASXL1 was amplified from genomic DNA by PCR and analyzed by direct sequencing.We could identify 7 different mutations in 10 (20%) patients, 7 with mutations in JAK2, 2 with mutations in CALR, and 1 TN. Themost frequent mutation was a 23 bp deletion found in 40% of positive cases. Of the 6 remaining mutations is only one case of each.We observed a frequency of 20% of ASXL1 mutations in our patients, being within the reported range for MPN (20?35 %). Sincethese mutations have an adverse predicted significance, the study of them could be useful in clinical practice for therapeutic decisionmaking.