Development and clinical validation of a blood test based on 29-gene expression for early detection of colorectal cancer

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

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)4604-4611
Number of pages8
JournalClinical Cancer Research
Volume22
Issue number18
DOIs
StatePublished - 15 Sep 2016

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Hematologic Tests
Early Detection of Cancer
Colorectal Neoplasms
Gene Expression
Colonoscopy
Adenomatous Polyps
Carcinoembryonic Antigen
Tumor Biomarkers
Genes
Differentiation Antigens
Neoplasm Antigens
Multicenter Studies
Blood Cells
Research Design
Biomarkers
Physicians
Mortality

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Ciarloni, L., Ehrensberger, S. H., Imaizumi, N., Monnier-Benoit, S., Nichita, C., Myung, S. J., ... Dorta, G. (2016). Development and clinical validation of a blood test based on 29-gene expression for early detection of colorectal cancer. Clinical Cancer Research, 22(18), 4604-4611. https://doi.org/10.1158/1078-0432.CCR-15-2057
Ciarloni, Laura ; Ehrensberger, Sahar Hosseinian ; Imaizumi, Natsuko ; Monnier-Benoit, Sylvain ; Nichita, Cristina ; Myung, Seung Jae ; Kim, Joosung ; Song, Si Young ; Kim, Tae Il ; Van Der Weg, Boudewijn ; Meier, Rémy ; Borovicka, Jan ; Beglinger, Christoph ; Vallet, Cédric ; Maerten, Philippe ; Rüegg, Curzio ; Dorta, Gian. / Development and clinical validation of a blood test based on 29-gene expression for early detection of colorectal cancer. In: Clinical Cancer Research. 2016 ; Vol. 22, No. 18. pp. 4604-4611.
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abstract = "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{\circledR}, 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.",
author = "Laura Ciarloni and Ehrensberger, {Sahar Hosseinian} and Natsuko Imaizumi and Sylvain Monnier-Benoit and Cristina Nichita and Myung, {Seung Jae} and Joosung Kim and Song, {Si Young} and Kim, {Tae Il} and {Van Der Weg}, Boudewijn and R{\'e}my Meier and Jan Borovicka and Christoph Beglinger and C{\'e}dric Vallet and Philippe Maerten and Curzio R{\"u}egg and Gian Dorta",
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Ciarloni, L, Ehrensberger, SH, Imaizumi, N, Monnier-Benoit, S, Nichita, C, Myung, SJ, Kim, J, Song, SY, Kim, TI, Van Der Weg, B, Meier, R, Borovicka, J, Beglinger, C, Vallet, C, Maerten, P, Rüegg, C & Dorta, G 2016, 'Development and clinical validation of a blood test based on 29-gene expression for early detection of colorectal cancer', Clinical Cancer Research, vol. 22, no. 18, pp. 4604-4611. https://doi.org/10.1158/1078-0432.CCR-15-2057

Development and clinical validation of a blood test based on 29-gene expression for early detection of colorectal cancer. / Ciarloni, Laura; Ehrensberger, Sahar Hosseinian; Imaizumi, Natsuko; Monnier-Benoit, Sylvain; Nichita, Cristina; Myung, Seung Jae; Kim, Joosung; Song, Si Young; Kim, Tae Il; Van Der Weg, Boudewijn; Meier, Rémy; Borovicka, Jan; Beglinger, Christoph; Vallet, Cédric; Maerten, Philippe; Rüegg, Curzio; Dorta, Gian.

In: Clinical Cancer Research, Vol. 22, No. 18, 15.09.2016, p. 4604-4611.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Development and clinical validation of a blood test based on 29-gene expression for early detection of colorectal cancer

AU - Ciarloni, Laura

AU - Ehrensberger, Sahar Hosseinian

AU - Imaizumi, Natsuko

AU - Monnier-Benoit, Sylvain

AU - Nichita, Cristina

AU - Myung, Seung Jae

AU - Kim, Joosung

AU - Song, Si Young

AU - Kim, Tae Il

AU - Van Der Weg, Boudewijn

AU - Meier, Rémy

AU - Borovicka, Jan

AU - Beglinger, Christoph

AU - Vallet, Cédric

AU - Maerten, Philippe

AU - Rüegg, Curzio

AU - Dorta, Gian

PY - 2016/9/15

Y1 - 2016/9/15

N2 - 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.

AB - 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.

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U2 - 10.1158/1078-0432.CCR-15-2057

DO - 10.1158/1078-0432.CCR-15-2057

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