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

Publication

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

Journal Paper/Review - Apr 28, 2016

Ciarloni Laura, Rüegg Curzio, Maerten Philippe, Vallet Cédric, Beglinger Christoph, Borovicka Jan, Meier Rémy, van der Weg Boudewijn, Kim Tae Il, Song Si Young, Kim Joo Sung, Myung Seung-Jae, Nichita Cristina, Monnier-Benoit Sylvain, Imaizumi Natsuko, Ehrensberger Sahar Hosseinian, Dorta Gian

Citation

Ciarloni L, Rüegg C, Maerten P, Vallet C, Beglinger C, Borovicka J, Meier R, van der Weg B, Kim T, Song S, Kim J, Myung S, Nichita C, Monnier-Benoit S, Imaizumi N, Ehrensberger S, Dorta G. Development and Clinical Validation of a Blood Test Based on 29-Gene Expression for Early Detection of Colorectal Cancer. Clin Cancer Res 2016; 22:4604-11.

Type

Journal Paper/Review (English)

Journal

Clin Cancer Res 2016; 22

Publication Date

Apr 28, 2016

Issn Print

1078-0432

Pages

4604-11

Brief description/objective

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®, 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. Clin Cancer Res; 22(18); 4604-11. ©2016 AACR.