Development and Clinical Validation of a Blood Test Based on 29-Gene Expression for Early Detection of Colorectal Cancer

作者：Ciarloni Laura; Ehren**erger Sahar Hosseinian; Imaizumi Natsuko; Monnier Benoit Sylvain; Nichita Cristina; Myung Seung Jae; Kim Joo Sung; Song Si Young; Il Kim Tae; van der Weg Boudewijn; Meier Remy; Borovicka Jan; Beglinger Christoph; Vallet Cedric; Maerten Philippe; Ruegg Curzio^*; Dorta Gian^*

来源：Clinical Cancer Research, 2016, 22(18): 4604-4611.

DOI：10.1158/1078-0432.CCR-15-2057

Purpose: A blood test for early detection of colorectal cancer is a valuable tool for testing asymptomatic individuals and reducing colorectal cancer-related mortality. The objective of this study was to develop and validate a novel blood test able to differentiate patients with colorectal cancer and adenomatous polyps (AP) from individuals with a negative colonoscopy.
Experimental Design: A case-control, multicenter clinical study was designed to collect blood samples from patients referred for colonoscopy or surgery. Predictive algorithms were developed on 75 controls, 61 large AP (LAP) >= 1 cm, and 45 colorectal cancer cases and independently validated on 74 controls, 42 LAP, and 52 colorectal cancer cases (23 stages I-II) as well as on 245 cases including other colorectal findings and diseases other than colorectal cancer. The test is based on a 29-gene panel expressed in peripheral blood mononuclear cells alone or in combination with established plasma tumor markers.
Results: The 29-gene algorithm detected colorectal cancer and LAP with a sensitivity of 79.5% and 55.4%, respectively, with 90.0% specificity. Combination with the protein tumor markers carcinoembryonic antigen (CEA) and CYFRA21-2 resulted in a specificity increase (92.2%) with a sensitivity for colorectal cancer and LAP detection of 78.1% and 52.3%, respectively.
Conclusions: We report the validation of a novel blood test, Colox (R), for the detection of colorectal cancer and LAP based on a 29-gene panel and the CEA and CYFRA21-1 plasma biomarkers. The performance and convenience of this routine blood test provide physicians a useful tool to test average-risk individuals unwilling to undergo upfront colonoscopy.

• 出版日期2016-9-15