Álvarez-Alegret Ramiro, Rojo Todo Federico, Garrido Pilar, Bellosillo Beatriz, Rodríguez-Lescure Álvaro, Rodríguez-Peralto José Luis, Vera Ruth, de Álava Enrique, García-Campelo Rosario, Remon Jordi
Departamento de Patología, Hospital Universitario Miguel Servet, Zaragoza, España.
Departamento de Patología, Fundación Universitaria Jiménez Díaz, CIBERONC, Madrid, España.
Rev Esp Patol. 2020 Oct-Dec;53(4):234-245. doi: 10.1016/j.patol.2019.12.001. Epub 2020 Mar 2.
The proportion of cancer patients with tumours that harbour a potentially targetable genomic alteration is increasing considerably. The diagnosis of these genomic alterations can lead to tailoring of treatment, at the onset of disease or during progression, as well as providing additional, predictive information on the efficacy of immunotherapy. However, in up to 25% of cases, the initial tissue biopsy is inadequate for precision oncology and, in many cases, tumour genomic profiling at progression is not possible due to technical limitations of obtaining new tumour tissue specimens. Efficient diagnostic alternatives are therefore required for molecular stratification, such as liquid biopsy. This technique enables the evaluation of the tumour genomic profile dynamically and as well as capturing intra-patient genomic heterogeneity. To date, there are several diagnostic techniques available for use in liquid biopsy, each with different precision and performance levels. The objective of this consensus statement of the Spanish Society of Pathology (SEAP) and the Spanish Society of Medical Oncology (SEOM) is to evaluate the viability and effectiveness of the different methodological approaches of liquid biopsy in cancer patients, and the potential application of this method to current clinical practice. The experts contributing to this consensus statement agree that, according to current evidence, liquid biopsy is an acceptable alternative to tumour tissue biopsy for the study of biomarkers in various clinical settings. It is therefore important to standardise pre-analytical and analytical procedures to ensure reproducibility and to generate structured and accessible clinical reports. It is essential to appoint multidisciplinary tumour molecular committees to oversee these processes and to enable the most suitable therapeutic decisions for each patient according to the genomic profile.
患有携带潜在可靶向基因组改变肿瘤的癌症患者比例正在大幅增加。这些基因组改变的诊断可在疾病初发时或进展期间实现治疗的个性化，同时还能提供有关免疫治疗疗效的额外预测信息。然而，在高达25%的病例中，最初的组织活检不足以用于精准肿瘤学，而且在许多情况下，由于获取新肿瘤组织标本的技术限制，进展期肿瘤基因组分析无法进行。因此，分子分层需要高效的诊断替代方法，如液体活检。这项技术能够动态评估肿瘤基因组图谱，并捕捉患者体内的基因组异质性。迄今为止，有几种诊断技术可用于液体活检，每种技术的精准度和性能水平各不相同。西班牙病理学会（SEAP）和西班牙医学肿瘤学会（SEOM）的这份共识声明的目的是评估液体活检不同方法在癌症患者中的可行性和有效性，以及该方法在当前临床实践中的潜在应用。参与这份共识声明的专家一致认为，根据目前的证据，在各种临床环境中研究生物标志物时，液体活检是肿瘤组织活检的可接受替代方法。因此，标准化分析前和分析程序以确保可重复性并生成结构化且易于获取的临床报告非常重要。必须任命多学科肿瘤分子委员会来监督这些过程，并根据基因组图谱为每位患者做出最合适的治疗决策。
