Department of Biological Sciences, College of Science, The University of Texas at El Paso, El Paso, TX 79968, USA.
Department of Mathematical Sciences, College of Science, The University of Texas at El Paso, El Paso, TX 79968, USA.
Int J Environ Res Public Health. 2021 Jul 9;18(14):7345. doi: 10.3390/ijerph18147345.
Next-generation sequencing (NGS) has identified unique biomarkers yielding new strategies in precision medicine for the treatment of Acute lymphoblastic leukemia (ALL). Hispanics show marked health disparities in ALL, often absent in clinical trials or cancer research. Thus, it is unknown whether Hispanics would benefit equally from curated data currently guiding precision oncology. Using whole-exome sequencing, nine ALL patients were screened for mutations within genes known to possess diagnostic, prognostic and therapeutic value. Genes mutated in Hispanic ALL patients from the borderland were mined for potentially pathogenic variants within clinically relevant genes. G12A was detected in this unique cohort and its frequency in Hispanics from the TARGET-ALL Phase II database was three-fold greater than that of non-Hispanics. N642H was also detected with low frequency in Hispanic and non-Hispanic individuals within TARGET. Its detection within this small cohort may reflect a common event in this demographic. Such variants occurring in the MAPK and JAK/STAT pathways may be contributing to Hispanic health disparities in ALL. Notable variants in , , and were observed in the ALL borderland cohort, with C19W occurring most frequently. Further investigations on the pathogenicity of these variants are needed to assess their relevance in ALL.
下一代测序（NGS）已经确定了独特的生物标志物，为急性淋巴细胞白血病（ALL）的精准医学治疗提供了新策略。西班牙裔人群在 ALL 方面存在明显的健康差异，而这些差异通常在临床试验或癌症研究中没有得到体现。因此，目前尚不清楚西班牙裔人群是否能从当前指导精准肿瘤学的精选数据中平等受益。本研究通过全外显子测序，筛选了 9 名 ALL 患者的基因中的突变，这些基因在具有诊断、预后和治疗价值方面具有已知的作用。在边境地区的西班牙裔 ALL 患者中，挖掘了临床相关基因中潜在致病性变异的基因。在这个独特的队列中检测到 G12A，其在 TARGET-ALL 二期数据库中西班牙裔患者中的频率是非西班牙裔患者的三倍。在 TARGET 中也检测到了低频率的 N642H，但在西班牙裔和非西班牙裔个体中。在这个小队列中检测到它可能反映了该人群中的一个常见事件。发生在 MAPK 和 JAK/STAT 通路中的此类变异可能是导致 ALL 中西班牙裔健康差异的原因。在 ALL 边境队列中观察到 、 和 中的显著变异，其中 C19W 最常见。需要进一步研究这些变异的致病性，以评估它们在 ALL 中的相关性。
