Ravegnini Gloria, Sammarini Giulia, Serrano César, Nannini Margherita, Pantaleo Maria A, Hrelia Patrizia, Angelini Sabrina
Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.
Vall d'Hebron Institute of Oncology, Vall d'Hebron University Hospital, Barcelona, Spain.
Ther Adv Med Oncol. 2019 Mar 1;11:1758835919831902. doi: 10.1177/1758835919831902. eCollection 2019.
In recent years, growing research interest has focused on the so-called liquid biopsy. A simple blood test offers access to a plethora of information, which might be extremely helpful in understanding or characterizing specific diseases. Blood contains different molecules, of which circulating free DNA (cfDNA), circulating tumor DNA (ctDNA), circulating tumor cells (CTCs) and extracellular vesicles (EVs) are the most relevant. Conceivably, these molecules have the potential for tumor diagnosis, monitoring tumor evolution, and evaluating treatment response and pharmacological resistance. This review aims to present a state-of-the-art of recent advances in circulating DNA and circulating RNA in gastrointestinal stromal tumors (GISTs). To date, progress in liquid biopsy has been scarce in GISTs due to several issues correlated with the nature of the pathology. Namely, heterogeneity in primary and secondary mutations in key driver genes has greatly slowed the development and application in GISTs, unlike in other tumor types in which liquid biopsy has already been translated into clinical practice. However, meaningful novel data have shown in recent years a significant clinical potential of ctDNA, CTCs, EVs and circulating RNA in GISTs.
近年来,越来越多的研究兴趣集中在所谓的液体活检上。一项简单的血液检测就能获取大量信息,这可能对理解或表征特定疾病极为有帮助。血液中含有不同的分子,其中循环游离DNA(cfDNA)、循环肿瘤DNA(ctDNA)、循环肿瘤细胞(CTC)和细胞外囊泡(EV)最为相关。可以想象,这些分子具有肿瘤诊断、监测肿瘤进展以及评估治疗反应和耐药性的潜力。本综述旨在介绍胃肠道间质瘤(GIST)中循环DNA和循环RNA的最新研究进展。迄今为止,由于与该病理学性质相关的几个问题,GIST的液体活检进展甚微。也就是说,关键驱动基因的原发性和继发性突变的异质性极大地减缓了其在GIST中的开发和应用,这与其他已将液体活检转化为临床实践的肿瘤类型不同。然而,近年来有意义的新数据表明,ctDNA、CTC、EV和循环RNA在GIST中具有巨大的临床潜力。