Santarpia Mariacarmela, Karachaliou Niki, González-Cao Maria, Altavilla Giuseppe, Giovannetti Elisa, Rosell Rafael
Medical Oncology Unit, Department of Human Pathology "G. Barresi", University of Messina, Messina, Italy.
Dr Rosell Oncology Institute, Quirón Dexeus University Hospital, Barcelona, Spain.
Biomark Med. 2016;10(4):417-30. doi: 10.2217/bmm.16.6. Epub 2016 Mar 14.
Tumor tissue genotyping is used routinely for lung cancer to identify specific targetable oncogenic alterations, including EGFR mutations and ALK rearrangements. However, tumor tissue from a single biopsy is often insufficient for molecular testing, may offer a limited evaluation because of tumor heterogeneity and can be difficult to obtain. Cell-free circulating tumor DNA has been widely investigated as a potential surrogate for tissue biopsy for noninvasive assessment of tumor-related genomic alterations. New techniques have improved EGFR mutations detection in ctDNA, thus supporting the use of this liquid biopsy for predicting response to EGFR tyrosine kinase inhibitors (TKIs) and monitoring the emergence of resistance. The serial evaluation of ctDNA during treatment is feasible and can be used to track tumor changes in real time and for a wide range of clinically useful applications.
肿瘤组织基因分型在肺癌中常规用于识别特定的可靶向致癌改变，包括EGFR突变和ALK重排。然而，单次活检获取的肿瘤组织往往不足以进行分子检测，由于肿瘤异质性可能提供有限的评估，并且可能难以获取。游离循环肿瘤DNA已被广泛研究作为组织活检的潜在替代物，用于肿瘤相关基因组改变的无创评估。新技术已改善了ctDNA中EGFR突变的检测，从而支持使用这种液体活检来预测对EGFR酪氨酸激酶抑制剂（TKIs）的反应并监测耐药性的出现。治疗期间对ctDNA的系列评估是可行的，可用于实时追踪肿瘤变化以及广泛的临床有用应用。
