El-Masry Omar S, Al-Amri Ali M, Alqatari Ahlam, Alsamman Khaldoon
Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Imam Abdulrahman Bin Faisal University, Dammam, Eastern Province 34212, Kingdom of Saudi Arabia.
Department of Internal Medicine/Oncology, College of Medicine, Imam Abdulrahman Bin Faisal University, King Fahd Hospital of The University, Al-Khobar, Eastern Province 34445, Kingdom of Saudi Arabia.
Biomed Rep. 2020 Nov;13(5):42. doi: 10.3892/br.2020.1349. Epub 2020 Aug 27.
Acute myeloid leukemia (AML) refers to heterogenous types of blood cancer which possess a complicated genomic landscape, and multiple novel mutational alterations are frequently being reported. Herein, a case report of a 37-year old AML patient is presented, who was diagnosed following laboratory investigation after admission. The patient had thrombocytopenia, and three consecutive blast counts of 40, 30 and 41%, respectively. A blood sample was collected for whole-genome RNA sequencing to understand the transcriptomic profile at the time of diagnosis and compared with a matched female control. Gene expression was quantified using the RSEM software package. Bioinformatics analysis revealed a significant number of differentially expressed genes in the patient, suggesting a marked change in the transcriptomic landscape in this patient. By mining the bioinformatics data and screening the highly expressed genes with ≥80% probability of gene expression, four novel genes were highlighted that may serve as potential future targets in AML patients; Rh associated glycoprotein, succinate receptor 1, transmembrane-4 L-six family member-1 and ADGRA3, although further validation of their value is required.
急性髓系白血病（AML）是指具有复杂基因组格局的异质性血癌类型，并且经常有多种新的突变改变被报道。在此，报告一例37岁AML患者的病例，该患者入院后经实验室检查确诊。患者有血小板减少症，连续三次原始细胞计数分别为40%、30%和41%。采集血样进行全基因组RNA测序，以了解诊断时的转录组概况，并与匹配的女性对照进行比较。使用RSEM软件包对基因表达进行定量。生物信息学分析显示该患者有大量差异表达基因，表明该患者转录组格局有显著变化。通过挖掘生物信息学数据并筛选基因表达概率≥80%的高表达基因，突出了四个可能成为AML患者未来潜在靶点的新基因；Rh相关糖蛋白、琥珀酸受体1、跨膜4 L-六家族成员1和ADGRA3，尽管它们的价值还需要进一步验证。
