Department of Medical Sciences, Uppsala University, Uppsala, Sweden.
Department of Immunology, Genetics and Pathology, Science for Laboratory, Uppsala University, Uppsala, Sweden.
J Intern Med. 2023 Aug;294(2):228-237. doi: 10.1111/joim.13682. Epub 2023 Jun 18.
The rapidly increasing availability of sequence information for tumor patients, combined with expanding treatment options, motivates efforts to monitor the course of disease for individual patients by analyzing patient-specific mutations in liquid biopsies, as highly specific markers of the malignancy. We discuss the suitability of established molecular methods to monitor patients with malignancies, in particular leukemias, comparing these to the recently developed super rolling circle amplification technique for highly sensitive, parallel measurements of mutant sequences using readily available instruments. The very high sensitivity for tumor-specific mutations-in combination with low cost and ready access at clinics-promises to allow routine monitoring of increasing numbers of tumor patients, in order to initiate improved treatments at the earliest timepoint possible, when necessary. A method with high-enough accuracy to enable monitoring in peripheral blood rather than bone marrow samples would present a great practical advantage, not least from the patient perspective. We describe scenarios in which sufficiently sensitive, inexpensive methods for mutational analysis can provide valuable guidance for the clinician in choosing among therapeutic options and adjusting ongoing treatment and help to promptly identify recurrences of disease in treated patients.
肿瘤患者的序列信息可用性迅速增加,加上治疗选择的扩大,这促使人们通过分析液体活检中患者特异性突变,作为恶性肿瘤的高度特异性标志物,来监测个体患者的疾病进程。我们讨论了使用现有的分子方法来监测恶性肿瘤患者的适用性,特别是白血病,将这些方法与最近开发的超级滚环扩增技术进行比较,该技术可使用现成的仪器进行高度敏感、平行的突变序列测量。肿瘤特异性突变的极高灵敏度——结合低成本和临床易得性——有望实现对越来越多肿瘤患者的常规监测,以便在必要时尽早开始改进治疗。一种具有足够高的准确性从而能够在外周血而不是骨髓样本中进行监测的方法,将具有很大的实际优势,从患者的角度来看尤其如此。我们描述了在这些情况下,足够敏感、廉价的突变分析方法可以为临床医生在治疗选择中提供有价值的指导,并帮助调整正在进行的治疗,以及帮助及时识别治疗患者疾病的复发。