Qari Mohamad H, Alattas Ali Alawi, Binkuddah Sultan Mohammed, Almarri Abdullah K, Shafy Suhayb, Alsulami Salem Khalifah, Alzuhayri Jumana
Internal Medicine, King Abdulaziz University, Jeddah, SAU.
Medicine, King Abdulaziz University, Jeddah, SAU.
Cureus. 2021 Jan 2;13(1):e12426. doi: 10.7759/cureus.12426.
Background Acute lymphoblastic leukemia (ALL) is an invasive cancer that results from the malignant conversion and rapid replication of white blood cells and hematopoietic stem cells that supply multiple lymphocytes. Harmful gene mutations occur in more than two-thirds of patients with ALL; however, these mutations have not been extensively identified in Saudi Arabia. Aim The aim of this study was to identify the types of mutations in patients with ALL at King Abdulaziz University Hospital (KAUH) in Jeddah. In addition, we identified the most common mutations. Methods A retrospective study was performed on patients who were diagnosed with ALL from January 2009 to January 2019 at the Department of Hematology at KAUH. Our target population comprised patients diagnosed with ALL, including all age groups and both sexes. Patients were excluded if they had Down syndrome or central nervous system involvement, Li-Fraumeni syndrome, or neurofibromatosis. Results Of the 130 patients with ALL, 101 (77.77%) were children. The number of men (n=81) was substantially more than that of women (n=49). The data showed that 13.1% of our patients had mutations, and they occurred more frequently in patients with B-cell lymphoblastic ALL (B-ALL) than in those with T-cell lymphoblastic ALL (T-ALL). Several mutations, including BCR-ABL and ETV6/RUNX1, were more common in B-ALL, whereas the MLL-F0X04mutation was more commonly observed in T-ALL. There was a significant difference between the types of ALL and the genes involved (p=0.039). One female patient had translocation t(X;11)(q26;q23) (MLL-F0X04), which is a rare mutation. Conclusion In summary, 13.1% of our study population had mutations. The BCR-ABL fusion gene was the most frequent mutation in patients at KAUH, and it occurred at a higher rate in B-ALL. Moreover, we detected other mutations, such as ETV6/RUNX1 and MLL-F0X04. The gene mutations were significantly different between B-ALL and T-ALL.
背景 急性淋巴细胞白血病（ALL）是一种侵袭性癌症，由供应多种淋巴细胞的白细胞和造血干细胞的恶性转化及快速复制引起。超过三分之二的ALL患者会发生有害基因突变；然而，这些突变在沙特阿拉伯尚未得到广泛鉴定。目的 本研究的目的是确定吉达阿卜杜勒阿齐兹国王大学医院（KAUH）ALL患者的突变类型。此外，我们还确定了最常见的突变。方法 对2009年1月至2019年1月在KAUH血液科诊断为ALL的患者进行回顾性研究。我们的目标人群包括诊断为ALL的患者，涵盖所有年龄组和男女两性。患有唐氏综合征或中枢神经系统受累、李-佛美尼综合征或神经纤维瘤病的患者被排除。结果 在130例ALL患者中，101例（77.77%）为儿童。男性患者数量（n = 81）显著多于女性患者（n = 49）。数据显示，13.1%的患者有突变，且在B细胞淋巴细胞白血病（B-ALL）患者中比在T细胞淋巴细胞白血病（T-ALL）患者中更频繁发生。包括BCR-ABL和ETV6/RUNX1在内的几种突变在B-ALL中更常见，而MLL-F0X04突变在T-ALL中更常观察到。ALL类型与所涉及基因之间存在显著差异（p = 0.039）。一名女性患者有t(X;11)(q26;q23)（MLL-F0X04）易位，这是一种罕见突变。结论 总之，我们研究人群中有13.1%的患者有突变。BCR-ABL融合基因是KAUH患者中最常见的突变，且在B-ALL中发生率更高。此外，我们还检测到其他突变，如ETV6/RUNX1和MLL-F0X04。B-ALL和T-ALL之间的基因突变存在显著差异。
