Molecular Biomarkers for the Evaluation of Colorectal Cancer: Guideline From the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology

doi:10.1016/j.jmoldx.2016.11.001

Practice Guideline

. 2017 Mar;19(2):187-225.

doi: 10.1016/j.jmoldx.2016.11.001. Epub 2017 Feb 6.

Molecular Biomarkers for the Evaluation of Colorectal Cancer: Guideline From the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology

Antonia R Sepulveda¹, Stanley R Hamilton², Carmen J Allegra³, Wayne Grody⁴, Allison M Cushman-Vokoun⁵, William K Funkhouser⁶, Scott E Kopetz⁷, Christopher Lieu⁸, Noralane M Lindor⁹, Bruce D Minsky¹⁰, Federico A Monzon¹¹, Daniel J Sargent¹², Veena M Singh¹³, Joseph Willis¹⁴, Jennifer Clark¹⁵, Carol Colasacco¹⁶, R Bryan Rumble¹⁷, Robyn Temple-Smolkin¹⁸, Christina B Ventura¹⁶, Jan A Nowak¹⁹

Affiliations

¹ Department of Pathology and Cell Biology, Columbia University, New York, NY. Electronic address: as4400@cumc.columbia.edu.
² Department of Pathology, University of Texas MD Anderson Cancer Center, Houston.
³ Division of Hematology and Oncology, University of Florida Medical Center, Gainesville.
⁴ Departments of Pathology and Laboratory Medicine, Pediatrics, and Human Genetics, UCLA Medical Center, Los Angeles, CA.
⁵ Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha.
⁶ Department of Pathology and Laboratory Medicine, University of North Carolina School of Medicine, Chapel Hill.
⁷ Department of Gastrointestinal (GI) Medical Oncology, University of Texas MD Anderson Cancer Center, Houston.
⁸ Division of Medical Oncology, University of Colorado Denver School of Medicine, Denver.
⁹ Department of Medical Genetics, Mayo Clinic, Scottsdale, AZ.
¹⁰ Department of Radiation Oncology, University of Texas MD Anderson Cancer Center, Houston.
¹¹ Castle Biosciences, Friendswood, TX.
¹² Department of Health Sciences Research, Mayo Clinic, Rochester, MN.
¹³ Biocept, San Diego, CA.
¹⁴ Department of Pathology, Case Western Reserve University, Cleveland, OH.
¹⁵ ASCP Institute for Science, Technology, and Policy, American Society for Clinical Pathology, Washington, DC.
¹⁶ Laboratory and Pathology Quality Center, College of American Pathologists, Northfield, IL.
¹⁷ American Society of Clinical Oncology, Alexandria, VA.
¹⁸ Association for Molecular Pathology, Bethesda, MD.
¹⁹ Department of Pathology and Laboratory Medicine, Roswell Park Cancer Institute, Buffalo, NY.

PMID: 28185757
PMCID: PMC5971222
DOI: 10.1016/j.jmoldx.2016.11.001

Practice Guideline

Molecular Biomarkers for the Evaluation of Colorectal Cancer: Guideline From the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology

Antonia R Sepulveda et al. J Mol Diagn. 2017 Mar.

. 2017 Mar;19(2):187-225.

doi: 10.1016/j.jmoldx.2016.11.001. Epub 2017 Feb 6.

Authors

Affiliations

¹ Department of Pathology and Cell Biology, Columbia University, New York, NY. Electronic address: as4400@cumc.columbia.edu.
² Department of Pathology, University of Texas MD Anderson Cancer Center, Houston.
³ Division of Hematology and Oncology, University of Florida Medical Center, Gainesville.
⁴ Departments of Pathology and Laboratory Medicine, Pediatrics, and Human Genetics, UCLA Medical Center, Los Angeles, CA.
⁵ Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha.
⁶ Department of Pathology and Laboratory Medicine, University of North Carolina School of Medicine, Chapel Hill.
⁷ Department of Gastrointestinal (GI) Medical Oncology, University of Texas MD Anderson Cancer Center, Houston.
⁸ Division of Medical Oncology, University of Colorado Denver School of Medicine, Denver.
⁹ Department of Medical Genetics, Mayo Clinic, Scottsdale, AZ.
¹⁰ Department of Radiation Oncology, University of Texas MD Anderson Cancer Center, Houston.
¹¹ Castle Biosciences, Friendswood, TX.
¹² Department of Health Sciences Research, Mayo Clinic, Rochester, MN.
¹³ Biocept, San Diego, CA.
¹⁴ Department of Pathology, Case Western Reserve University, Cleveland, OH.
¹⁵ ASCP Institute for Science, Technology, and Policy, American Society for Clinical Pathology, Washington, DC.
¹⁶ Laboratory and Pathology Quality Center, College of American Pathologists, Northfield, IL.
¹⁷ American Society of Clinical Oncology, Alexandria, VA.
¹⁸ Association for Molecular Pathology, Bethesda, MD.
¹⁹ Department of Pathology and Laboratory Medicine, Roswell Park Cancer Institute, Buffalo, NY.

PMID: 28185757
PMCID: PMC5971222
DOI: 10.1016/j.jmoldx.2016.11.001

Abstract

Objectives: To develop evidence-based guideline recommendations through a systematic review of the literature to establish standard molecular biomarker testing of colorectal cancer (CRC) tissues to guide epidermal growth factor receptor (EGFR) therapies and conventional chemotherapy regimens.

Methods: The American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology convened an expert panel to develop an evidence-based guideline to establish standard molecular biomarker testing and guide therapies for patients with CRC. A comprehensive literature search that included more than 4,000 articles was conducted.

Results: Twenty-one guideline statements were established.

Conclusions: Evidence supports mutational testing for EGFR signaling pathway genes, since they provide clinically actionable information as negative predictors of benefit to anti-EGFR monoclonal antibody therapies for targeted therapy of CRC. Mutations in several of the biomarkers have clear prognostic value. Laboratory approaches to operationalize CRC molecular testing are presented. Key Words: Molecular diagnostics; Gastrointestinal; Histology; Genetics; Oncology.

Copyright © 2017 American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, American Society for Clinical Oncology, and American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.

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References

1. Febbo P.G., Ladanyi M., Aldape K.D. NCCN task force report: evaluating the clinical utility of tumor markers in oncology. J Natl Compr Cancer Netw. 2011;9 Suppl 5:S1–S33. - PubMed
1. Grothey A. EGFR antibodies in colorectal cancer: where do they belong? J Clin Oncol. 2010;28:4668–4670. - PubMed
1. De Roock W., Claes B., Bernasconi D. Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis. Lancet Oncol. 2010;11:753–762. - PubMed
1. De Roock W., De Vriendt V., Normanno N. KRAS, BRAF, PIK3CA, and PTEN mutations: implications for targeted therapies in metastatic colorectal cancer. Lancet Oncol. 2011;12:594–603. - PubMed
1. Rubenstein J.H., Enns R., Heidelbaugh J. American Gastroenterological Association Institute guideline on the diagnosis and management of Lynch syndrome. Gastroenterology. 2015;149:777–782. - PubMed

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[1] Febbo P.G., Ladanyi M., Aldape K.D. NCCN task force report: evaluating the clinical utility of tumor markers in oncology. J Natl Compr Cancer Netw. 2011;9 Suppl 5:S1–S33. - PubMed

[2] Febbo P.G., Ladanyi M., Aldape K.D. NCCN task force report: evaluating the clinical utility of tumor markers in oncology. J Natl Compr Cancer Netw. 2011;9 Suppl 5:S1–S33. - PubMed

[3] Grothey A. EGFR antibodies in colorectal cancer: where do they belong? J Clin Oncol. 2010;28:4668–4670. - PubMed

[4] Grothey A. EGFR antibodies in colorectal cancer: where do they belong? J Clin Oncol. 2010;28:4668–4670. - PubMed

[5] De Roock W., Claes B., Bernasconi D. Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis. Lancet Oncol. 2010;11:753–762. - PubMed

[6] De Roock W., Claes B., Bernasconi D. Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis. Lancet Oncol. 2010;11:753–762. - PubMed

[7] De Roock W., De Vriendt V., Normanno N. KRAS, BRAF, PIK3CA, and PTEN mutations: implications for targeted therapies in metastatic colorectal cancer. Lancet Oncol. 2011;12:594–603. - PubMed

[8] De Roock W., De Vriendt V., Normanno N. KRAS, BRAF, PIK3CA, and PTEN mutations: implications for targeted therapies in metastatic colorectal cancer. Lancet Oncol. 2011;12:594–603. - PubMed

[9] Rubenstein J.H., Enns R., Heidelbaugh J. American Gastroenterological Association Institute guideline on the diagnosis and management of Lynch syndrome. Gastroenterology. 2015;149:777–782. - PubMed

[10] Rubenstein J.H., Enns R., Heidelbaugh J. American Gastroenterological Association Institute guideline on the diagnosis and management of Lynch syndrome. Gastroenterology. 2015;149:777–782. - PubMed

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Molecular Biomarkers for the Evaluation of Colorectal Cancer: Guideline From the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology

Affiliations

Molecular Biomarkers for the Evaluation of Colorectal Cancer: Guideline From the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology

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