El-Masry Omar S, Alamri Ali M, Alzahrani Faisal, Alsamman Khaldoon
Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Imam Abdulrahaman Bin Faisal University, Dammam, 31441, Saudi Arabia.
Department of Internal Medicine, King Fahd Hospital of the University, Imam Abdulrahaman Bin Faisal University, Alkhobar, 34445, Saudi Arabia.
Heliyon. 2022 Mar 6;8(3):e09065. doi: 10.1016/j.heliyon.2022.e09065. eCollection 2022 Mar.
Acute myeloid leukaemia (AML) is a blood cancer with a heterogeneous genomic landscape. This study aimed to mine bioinformatics data generated by RNA sequencing to unveil an AML case transcriptome profile and identify novel therapeutic targets and markers. In this study, we have determined the transcriptomic profile and analysed gene variants of an AML patient at the time of diagnosis and validated some genes by quantitative reverse transcriptase polymerase chain reaction. , , and () were markedly upregulated compared to the corresponding control. In addition, novel exonic single-nucleotide and insertion/deletion variants were identified in these genes. Hence, , , and can be proposed as potential novel targets in AML, and their exact roles should be further explored.
急性髓系白血病(AML)是一种具有异质性基因组格局的血癌。本研究旨在挖掘RNA测序产生的生物信息学数据,以揭示一例AML病例的转录组图谱,并确定新的治疗靶点和标志物。在本研究中,我们确定了一名AML患者诊断时的转录组图谱,并分析了基因变异,同时通过定量逆转录聚合酶链反应验证了一些基因。与相应对照相比, 、 和 ( )显著上调。此外,在这些基因中鉴定出了新的外显子单核苷酸和插入/缺失变异。因此, 、 和 可被提议作为AML潜在的新靶点,其确切作用有待进一步探索。