NOVEL RUNX1 VARIATION IN B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA

Abstract

Acute lymphoblastic leukemia (ALL) is a malignant disease of hematopoietic stem cells.B cell ALL (B-ALL) is characterized by highly proliferative and poorly differentiated progenitorB cells in the bone marrow. Chromosomal rearrangements, aberrant cell signaling, and mutationslead to dysregulated cell cycle and clonal proliferation of abnormal B cell progenitors. In this study,we aimed to examine hot spot genetic variations in the RUNX1, IDH2, and IL2RA genes in a groupof (n=52) pediatric B-ALL. Sanger sequencing results revealed a rare RUNX1 variantp.Leu148Gln in one B-ALL patient with disease recurrence. Additionally, common intronicvariations rs12358961 and rs11256369 of IL2RA were determined in two patients. None of thepatients had the IDH2 variant.RUNX1, IDH2, and IL2RA variations were rare events in ALL. This study detected a novelpathogenic RUNX1 variation in a patient with a poor prognosis. Examining prognosticallyimportant genetic anomalies of childhood lymphoblastic leukemia patients and the signalingpathway components will pilot more accurate prognosis estimations.