Molecular Testing in Colorectal Cancer: Diagnosis of Lynch Syndrome and Personalized Cancer Medicine

• Published in: American journal of clinical pathology 2012-06, Vol.137 (6), p.847-859
• Main Authors: CHANJUAN SHI, WASHINGTON, Kay
• Format: Article
• Language: English
• Subjects: Antibodies, Monoclonal - therapeutic use; Biological and medical sciences; Carcinoma - diagnosis; Carcinoma - drug therapy; Carcinoma - genetics; Carcinoma - pathology; Colorectal cancer; Colorectal Neoplasms - diagnosis; Colorectal Neoplasms - drug therapy; Colorectal Neoplasms - genetics; Colorectal Neoplasms - pathology; Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis; Colorectal Neoplasms, Hereditary Nonpolyposis - drug therapy; Colorectal Neoplasms, Hereditary Nonpolyposis - genetics; Colorectal Neoplasms, Hereditary Nonpolyposis - pathology; Gastroenterology. Liver. Pancreas. Abdomen; Humans; Investigative techniques, diagnostic techniques (general aspects); Medical sciences; Microsatellite Instability; Multiplex Polymerase Chain Reaction; Mutation; Pathology, Molecular - methods; Pathology, Molecular - trends; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques; Precision Medicine - methods; Prognosis; Receptor, Epidermal Growth Factor - immunology; Signal Transduction - genetics; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus; Tumors
• ISSN: 0002-9173; 1943-7722
• DOI: 10.1309/AJCPI83DINULUJNI

Currently, molecular testing in colorectal cancer (CRC) is aimed at detecting Lynch syndrome and predicting response to anti-epidermal growth factor receptor (EGFR) therapies. However, CRC is a complex disease, with at least 3 molecular pathways of carcinogenesis. The importance of the EGFR signaling pathway in colorectal carcinogenesis is underscored by the availability of anti-EGFR monoclonal antibodies for the treatment of some metastatic CRCs. Potentially, mutations in any of the genes in the EGFR signaling pathway may be associated with prognosis and may predict response to anti-EGFR or other targeted therapies. Although not currently the standard of care, molecular testing of CRCs is expanding to include mutational analysis of the genes in the EGFR pathway, in addition to more widely performed tests for identifying cancers with high microsatellite instability. Multiplex molecular prognostic panels for therapeutic decision making in stage II CRCs also represent expanding use of molecular testing for this common cancer.