Rare condition where patients present with 100s to 1000s of adenomatous polyps
Hereditary nonpolyposis colorectal cancer (HNPCC) (Lynch syndrome)
Extra colorectal cancers also occur, especially endometrial cancer
Hamartomatous polyps
Peutz Jeghers syndrome
Juvenile polyposis
Cowden syndrome
Other
Ureterosigmoidostomy – can develop more than 15 years post procedure
Pathophysiology
Most colorectal cancers arise from adenomatous polyps; although a subset may develop from hyperplastic polyps, especially large, right-sided ones
Villous adenomas become malignant three times more frequently than tubular adenomas
Adenocarcinoma is the usual cell type – only considered malignant if it penetrates into the submucosa
Other tumors are uncommon
Lymphomas, endocrine and mesenchymal tumors
Clinical Presentation
Symptoms vary with tumor location – most are located in sigmoid colon and rectum
Cecal and ascending colon – tumors may be very large without obstructing
Anemia is a common presenting symptom
Descending and transverse colon – tumors tend to obstruct and cause annular lesions (apple core or napkin ring) with abdominal pain and bloating
Rectosigmoid – hematochezia, tenesmus and narrowing of stool caliber
Diagnosis
Imaging studies
Colonoscopy
Barium study
Laboratory testing
Histology
Genetic changes in tumors
Mostly used for the evaluation of HNPCC (Lynch syndrome)
Microsatellite instability (MSI) can occur both with HNPCC and in sporadic colorectal cancer
BRAF and MLH1 methylation
BRAF gene encodes a serine-threonine kinase and plays a role in the mitogen-activated protein kinase signaling pathway
Commonly seen in sporadic unstable colorectal cancer; has not been reported in Lynch-associated cancers
Its presence strongly supports sporadic colon cancer
Similarly, MLH1 methylation is commonly seen in sporadic microsatellite unstable colorectal cancer and has only rarely been reported in Lynch-associated cancers
Germline testing for inherited colorectal cancer syndromes of affected individuals and family members
For fixed tissue samples, consultative services as well as immunohistochemical staining for CEA, CK20, Muc-1, Muc-2 Glycoprotein, p16, p21, p27, p53, microsatellite instability/HNPCC, and EGFR pharmDX™ are available
Additional Tests Available
Click on number for test-specific information in the ARUP Laboratory Test Directory
The CEA assay value, regardless of level, should not be interpreted as evidence for the presence or absence of malignant disease and is not recommended for use as a screening procedure to detect the presence of cancer in the general population
Guidelines
Colorectal cancer screening and surveillance: clinical guidelines and rationale-update based on new evidence. American College of Gastroenterology - Medical Specialty Society
American College of Physicians - Medical Specialty Society
American Gastroenterological Association Institute - Medical Specialty Society
American Society for Gastrointestinal Endoscopy - Medical Specialty Society. 1997 Feb (revised 2003 Feb) . 48 pages. NGC:002912
(Link to NGC)
General References
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References from the ARUP Institute for Clinical and Experimental Pathology®
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Reviewed by
Roberts, William L. , M.D., Ph.D. Medical Director, Automated Core Laboratory at ARUP Laboratories; Professor, Pathology, University of Utah
Samowitz, Wade S. , M.D. Medical Director, AP Molecular Oncology at ARUP Laboratories; Professor, Anatomic Pathology, University of Utah
Comprehensive Review: March 2008
Last Update: July 2008