NOVEL RUNX1 VARIATION IN B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA
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Keywords
B-ALL, NOTCH, RUNX1, IL2RA, IDH2
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 progenitor
B cells in the bone marrow. Chromosomal rearrangements, aberrant cell signaling, and mutations
lead 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 group
of (n=52) pediatric B-ALL. Sanger sequencing results revealed a rare RUNX1 variant
p.Leu148Gln in one B-ALL patient with disease recurrence. Additionally, common intronic
variations rs12358961 and rs11256369 of IL2RA were determined in two patients. None of the
patients had the IDH2 variant.
RUNX1, IDH2, and IL2RA variations were rare events in ALL. This study detected a novel
pathogenic RUNX1 variation in a patient with a poor prognosis. Examining prognostically
important genetic anomalies of childhood lymphoblastic leukemia patients and the signaling
pathway components will pilot more accurate prognosis estimations.
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