Laboratory of Oncomolecular Biology, Department of Haematology, LHUB-ULB.
Laboratory of Haemato-oncology Cytogenetics, Jules Bordet Institute, Université Libre de Bruxelles, Brussels, Belgium.
Curr Opin Oncol. 2020 Sep;32(5):391-397. doi: 10.1097/CCO.0000000000000666.
In this study, we will give an overview on the current and foreseeable indications of next-generation sequencing (NGS)-based technologies for the diagnosis, prognostic assessment and decision of individualized treatment strategy in lymphomas.
Recent NGS-based studies have offered a comprehensive knowledge of the genetic landscapes featuring B-cell and T-cell lymphomas, with identification of genomic biomarkers useful for a better subclassification and, therefore, for a more accurate diagnosis. NGS analyses in lymphoma have also unveiled recurrent somatic mutations representing novel potential therapeutic targets or underlying drug resistance, and paved the way for tailor-made medicine. High throughput sequencing methods may also identify lymphoma-specific genetic aberrations in circulating tumoral DNA (liquid biopsy) obtained from blood samples. This suggests the possibility of performing minimally invasive diagnosis and real-time monitoring, with early detection of relapse and possibility of response-adapted therapy approaches.
NGS analyses should be included shortly in the diagnostic work up of lymphomas. Applying NGS to liquid biopsy at diagnosis and during follow up of lymphoma patients will be a significant breakthrough towards precision medicine.
本研究将概述基于下一代测序(NGS)的技术在淋巴瘤的诊断、预后评估和个体化治疗策略决策中的当前和可预见的适应证。
最近基于 NGS 的研究提供了对 B 细胞和 T 细胞淋巴瘤的遗传特征的全面了解,确定了用于更好细分的基因组生物标志物,从而实现更准确的诊断。淋巴瘤的 NGS 分析还揭示了反复出现的体细胞突变,代表了新的潜在治疗靶点或潜在的耐药性,为制定个体化治疗方案铺平了道路。高通量测序方法还可以识别血液样本中循环肿瘤 DNA(液体活检)中的淋巴瘤特异性遗传异常。这表明可以进行微创诊断和实时监测,早期发现复发并有可能采用反应适应性治疗方法。
NGS 分析应尽快纳入淋巴瘤的诊断工作中。在淋巴瘤患者的诊断和随访中应用 NGS 进行液体活检将是迈向精准医学的重大突破。