Evaluation of a novel liquid biopsy-based ColoScape assay for mutational analysis of colorectal neoplasia and triage of FIT+ patients: a pilot study
作者： Silvana Russo Spena , Farah Patell-Socha , Qing Sun , Michael J Powell , Umberto Malapelle
DOI: 10.1136/JCLINPATH-2018-205412
关键词: KRAS 、 Population study 、 Internal medicine 、 Cancer 、 Colonoscopy 、 Oncology 、 Triage 、 Clinical trial 、 Liquid biopsy 、 Colorectal cancer 、 Medicine
摘要: Circulating cell free tumour derived nucleic acids are becoming recognised as clinically significant and extremely useful biomarkers for detection of cancer monitoring the progression targeted drug therapy immunotherapy. Screening programmes colorectal in Europe use Fetal Immunochemical Test (FIT) test a primary screener. FIT+ patients referred to immediate colonoscopy positive predictive value (PPV) is usually 25%. In this article, we report study employing ColoScape assay panel detect mutations APC, KRAS, BRAF CTNNB1 genes, order collect preliminary performance indicators plan future, larger population study. The was evaluated on 52 prospectively collected whole-blood samples obtained from enrolled CRC screening programme ASL NAPOLI 3 SUD, using confirmation. assay's sensitivity advanced adenomas 53.8% specificity 92.3%. PPV 70.0% negative predicitive (NPV) 85.7%. Workflow optimisation essential maximise sensitivity. Of note, four six cases missed by had less than suboptimal DNA input (data not shown). Had they been ruled out inadequate, would have increased 69%. However, stated previously, clinical trial, but rather an initial, technical evaluation. conclusion shows that promising tool further studies warranted validate its triage patients.
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