Current and Emerging Applications of Droplet Digital PCR in Oncology: An Updated Review

液体活检 数字聚合酶链反应 医学 个性化医疗 循环肿瘤细胞 精密医学 靶向治疗 胎儿游离DNA 微小残留病 肿瘤科 病理 癌症研究 癌症 聚合酶链反应 内科学 生物 生物信息学 骨髓 胎儿 生物化学 产前诊断 转移 怀孕 遗传学 基因
作者
Susana Olmedillas‐López,Rocío Olivera-Salazar,Mariano García‐Arranz,Damián García‐Olmo
出处
期刊:Molecular Diagnosis & Therapy [Adis, Springer Healthcare]
卷期号:26 (1): 61-87 被引量:70
标识
DOI:10.1007/s40291-021-00562-2
摘要

In the era of personalized medicine and targeted therapies for the management of patients with cancer, ultrasensitive detection methods for tumor genotyping, such as next-generation sequencing or droplet digital polymerase chain reaction (ddPCR), play a significant role. In the search for less invasive strategies for diagnosis, prognosis and disease monitoring, the number of publications regarding liquid biopsy approaches using ddPCR has increased substantially in recent years. There is a long list of malignancies in which ddPCR provides a reliable and accurate tool for detection of nucleic acid-based markers derived from cell-free DNA, cell-free RNA, circulating tumor cells, extracellular vesicles or exosomes when isolated from whole blood, plasma and serum, helping to anticipate tumor relapse or unveil intratumor heterogeneity and clonal evolution in response to treatment. This updated review describes recent developments in ddPCR platforms and provides a general overview about the major applications of liquid biopsy in blood, including its utility for molecular response and minimal residual disease monitoring in hematological malignancies or the therapeutic management of patients with colorectal or lung cancer, particularly for the selection and monitoring of treatment with tyrosine kinase inhibitors. Although plasma is the main source of genetic material for tumor genomic profiling, liquid biopsy by ddPCR is being investigated in a wide variety of biologic fluids, such as cerebrospinal fluid, urine, stool, ocular fluids, sputum, saliva, bronchoalveolar lavage, pleural effusion, mucin, peritoneal fluid, fine needle aspirate, bile or pancreatic juice. The present review focuses on these "alternative" sources of genetic material and their analysis by ddPCR in different kinds of cancers.
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