King Abdullah International Medical Research Center (KAIMRC), Department of Bionformatics, Ministry of National Guard Health Affairs, King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh 11426, Saudi Arabia.
King Abdullah International Medical Research Center (KAIMRC), Medical Genomics Research Department, Ministry of National Guard Health Affairs, King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh 11426, Saudi Arabia.
Genes (Basel). 2021 Aug 27;12(9):1326. doi: 10.3390/genes12091326.
B-lineage acute lymphocytic leukemia (B-ALL) is characterized by different genetic aberrations at a chromosomal and gene level which are very crucial for diagnosis, prognosis and risk assessment of the disease. However, there is still controversial arguments in regard to disease outcomes in specific genetic abnormalities, e.g., 9p-deletion. Moreover, in absence of cytogenetic abnormalities it is difficult to predict B-ALL progression. Here, we use the advantage of Next-generation sequencing (NGS) technology to study the mutation landscape of 12 patients with B-ALL using Comprehensive Cancer Panel (CCP) which covers the most common mutated cancer genes. Our results describe new mutations in gene including S661N, S557G, and Q170X which might be associated with disease progression.
B 系急性淋巴细胞白血病 (B-ALL) 的特征在于染色体和基因水平的不同遗传异常，这些异常对疾病的诊断、预后和风险评估非常重要。然而，在特定的遗传异常（如 9p 缺失）方面，仍然存在有争议的论点。此外，在没有细胞遗传学异常的情况下，很难预测 B-ALL 的进展。在这里，我们利用下一代测序 (NGS) 技术的优势，使用涵盖最常见突变癌症基因的综合癌症面板 (CCP) 研究了 12 名 B-ALL 患者的突变图谱。我们的研究结果描述了包括 S661N、S557G 和 Q170X 在内的基因中的新突变，这些突变可能与疾病进展有关。
