Original Articles
Vol. 15 No. 1 (2023): Review Articles, Original Article, Scientific Letter, Case Reports Letter to the Editor
NOVEL RUNX1 VARIATION IN B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA
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All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Received: December 22, 2022
Accepted: May 18, 2023
Accepted: May 18, 2023
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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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How to Cite
“NOVEL RUNX1 VARIATION IN B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA” (2023) Mediterranean Journal of Hematology and Infectious Diseases, 15(1), p. e2023036. doi:10.4084/MJHID.2023.036.
Copyright (c) 2023 Egzona Qipa, Muradiye Acar, Sureyya Bozkurt, Murat Buyukdogan, Hazal Berivan Sonmez, Muge Sayitoglu, Yucel Erbilgin, Zeynep Karakas, Veysel Sabri Hancer
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
