Document Detail


Pathology of the hereditary colorectal carcinoma.
MedLine Citation:
PMID:  17564815     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Positive familial history (first or second degree relative) for colorectal carcinoma (CRC) can be found in approximately 30% of all newly diagnosed cases, but less than 5% will be due to a defined genetic category of hereditary CRC. Pathologic examination of the biopsy or resection specimen can help in identification of unsuspected cases of certain forms of hereditary CRC due to the characteristic morphologic findings. Additional immunohistochemical and molecular studies can then provide a definitive diagnosis. The most common form of hereditary CRC is Lynch syndrome (hereditary non-polyposis colorectal cancer, HNPCC) which is characterized by proximally located tumors frequently showing mucinous and medullary type histologic features. The syndrome results from a germline mutation in genes for mismatch repair (MMR) proteins leading to insufficient DNA repair and development of tumors characterized by high levels of instability in short tandem repeat DNA sequences (microsatellites) or "microsatellite instability-high" (MSI-H). The presence of intra-epithelial lymphocytes is single most helpful morphologic feature in identification of CRC caused by deficiency in MMR proteins, for which MSI-H status is a good marker but morphologic features and MSI-H do not differentiate tumors caused by germline mutations in one of the MMR genes (Lynch syndrome) from sporadic CRC due to inactivation of MLH-1 through promoter methylation. Hereditary CRC may also arise in various familial polyposis syndromes which include familial adenomatous polyposis (FAP), attenuated FAP and other multiple adenomas syndromes as well as various hamartomatous polyposis syndromes. All of these rare conditions have characteristic clinical presentation and histopathologic features of polyps and most of them have defined genetic abnormality. Furthermore, due to the germline nature of mutations in these syndromes, various extracolonic manifestations may be the first sign of the disease and knowledge of such associations can greatly improve the quality of care for these patients. The role of pathologist is to recognize these characteristics and initiate appropriate follow up with clinicians and genetic counselors.
Authors:
Zoran Gatalica; Emina Torlakovic
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review     Date:  2007-06-13
Journal Detail:
Title:  Familial cancer     Volume:  7     ISSN:  1389-9600     ISO Abbreviation:  Fam. Cancer     Publication Date:  2008  
Date Detail:
Created Date:  2008-02-25     Completed Date:  2008-07-08     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100898211     Medline TA:  Fam Cancer     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  15-26     Citation Subset:  IM    
Affiliation:
Department of Pathology, Creighton University Medical Center, Omaha, NE 68131, USA. zorangatalica@creighton.edu
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MeSH Terms
Descriptor/Qualifier:
Adenocarcinoma, Mucinous / pathology
Adenomatous Polyposis Coli / diagnosis,  genetics,  pathology*
Carcinoma, Medullary / pathology
Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis,  genetics,  pathology*
DNA Mismatch Repair
Diagnosis, Differential
Genetic Predisposition to Disease
Genomic Instability
Germ-Line Mutation
Humans
Lymphocytes, Tumor-Infiltrating / pathology*
Peutz-Jeghers Syndrome / diagnosis,  genetics,  pathology*
Tumor Markers, Biological
Chemical
Reg. No./Substance:
0/Tumor Markers, Biological

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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