Ibáñez Mariam, Such Esperanza, Liquori Alessandro, Avestisyan Gayane, Andreu Rafael, Vicente Ana, Macián María José, Melendez Mari Carmen, Morote-Faubel Mireya, Asensi Pedro, Lloret María Pilar, Jarque Isidro, Picón Isabel, Pacios Alejandro, Donato Eva, Mas-Ochoa Carmen, Alonso Carmen, Cañigral Carolina, Sempere Amparo, Romero Samuel, Santiago Marta, Sanz Guillermo F, de la Rubia Javier, Senent Leonor, Luna Irene
Department of Hematology, Hospital Universitario y Politécnico La Fe, 46026 Valencia, Spain.
Hematology Research Group, Department of Medicine, La Fe Health Research Institute, University of Valencia, 46026 Valencia, Spain.
Diagnostics (Basel). 2022 Apr 11;12(4):953. doi: 10.3390/diagnostics12040953.
According to current guidelines, in chronic lymphocytic leukemia (CLL), only the molecular status must be evaluated prior to every treatment's initiation. However, additional heterogeneous genetic events are known to confer a proliferative advantage to the tumor clone and are associated with progression and treatment failure in CLL patients. Here, we describe the implementation of a comprehensive targeted sequencing solution that is suitable for routine clinical practice and allows for the detection of the most common somatic single-nucleotide and copy number variants in genes relevant to CLL. We demonstrate that this cost-effective strategy achieves variant detection with high accuracy, specificity, and sensitivity. Furthermore, we identify somatic variants and copy number variations in genes with prognostic and/or predictive value, according to the most recent literature, and the tool provides evidence about subclonal events. This next-generation sequencing (NGS) capture-based target assay is an improvement on current approaches in defining molecular prognostic and/or predictive variables in CLL patients.
根据当前指南，在慢性淋巴细胞白血病（CLL）中，仅需在每次治疗开始前评估分子状态。然而，已知其他异质性基因事件会赋予肿瘤克隆增殖优势，并与CLL患者的疾病进展和治疗失败相关。在此，我们描述了一种适用于常规临床实践的综合靶向测序解决方案的实施情况，该方案能够检测与CLL相关基因中最常见的体细胞单核苷酸和拷贝数变异。我们证明，这种经济高效的策略能够以高精度、特异性和灵敏度实现变异检测。此外，根据最新文献，我们在具有预后和/或预测价值的基因中鉴定出体细胞变异和拷贝数变异，并且该工具提供了亚克隆事件的证据。这种基于下一代测序（NGS）捕获的靶向检测方法是对当前定义CLL患者分子预后和/或预测变量方法的改进。
