Novel RUNX1 Variation in B-cell Acute Lymphoblastic Leukemia.

IF 2 4区医学 Q3 HEMATOLOGY Mediterranean Journal of Hematology and Infectious Diseases Pub Date : 2023-01-01 DOI:10.4084/MJHID.2023.036

Egzona Qipa, Muradiye Acar, Sureyya Bozkurt, Murat Buyukdogan, Hazal B Sonmez, Muge Sayitoglu, Yucel Erbilgin, Zeynep Karakaş, Veysel S Hançer

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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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b细胞急性淋巴母细胞白血病中新的RUNX1变异。

急性淋巴细胞白血病(ALL)是一种造血干细胞恶性疾病。B细胞ALL (B-ALL)的特点是骨髓中高增殖和低分化的祖B细胞。染色体重排、异常的细胞信号和突变导致异常B细胞祖细胞的细胞周期失调和克隆增殖。在这项研究中，我们旨在检测一组(n=52)儿童B-ALL中RUNX1、IDH2和IL2RA基因的热点遗传变异。Sanger测序结果在一名复发的B-ALL患者中发现了罕见的RUNX1变异p.l u148gln。此外，在两名患者中检测到IL2RA常见的内含子变异rs12358961和rs11256369。没有患者有IDH2变异。RUNX1, IDH2和IL2RA变异在ALL中是罕见的事件。本研究在一位预后不良的患者中发现了一种新的致病RUNX1变异。检查儿童淋巴细胞白血病患者预后重要的遗传异常和信号通路成分将引导更准确的预后估计。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Mediterranean Journal of Hematology and Infectious Diseases Medicine-Hematology

CiteScore

4.20

自引率

6.20%

发文量

113

审稿时长

12 weeks

期刊介绍： Reciprocal interdependence between infectious and hematologic diseases (malignant and non-malignant) is well known. This relationship is particularly evident in Mediterranean countries. Parasitosis as Malaria, Leishmaniosis, B Hookworms, Teniasis, very common in the southeast Mediterranean area, infect about a billion people and manifest prevalently with anemia so that they are usually diagnosed mostly by experienced hematologist on blood or bone marrow smear. On the other hand, infections are also a significant problem in patients affected by hematological malignancies. The blood is the primary vector of HIV infection, which otherwise manifest with symptoms related to a reduction in T lymphocytes. In turn, infections can favor the insurgency of hematological malignancies. The causative relationship between Epstein-Barr virus infection, Helicobacter pylori, hepatitis C virus, HIV and lymphoproliferative diseases is well known.