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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9
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pubmed:dateCreated |
2011-8-15
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pubmed:abstractText |
Identification of Lynch syndrome tumors is challenging. This relates particularly to MSH6-associated cases, which show reduced penetrance of colorectal cancer and a higher age at diagnosis. We recorded the clinical and morphologic features of 52 MSH6-associated colorectal cancers in comparison with MLH1/MSH2-mutant tumors and sporadic mismatch repair-deficient cancers. In the MSH6 subset, we confirmed a higher age (median, 56 y) at diagnosis and found a significantly larger proportion (25%) of rectal cancers. Presence of dirty necrosis was the sole histologic component that significantly differed between MSH6 and MLH1/MSH2 tumors. Compared with the sporadic mismatch repair-defective cohort, MSH6 cases had a lower prevalence of tumor-infiltrating lymphocytes and Crohn-like reactions. Mismatch repair defects were identified in 92% of MSH6 tumors, with high concordance between microsatellite instability and loss of immunohistochemical MSH6 expression. The remaining 8% showed a mismatch repair-stable phenotype, which suggests that analysis of additional tumors might be considered in families suspected of Lynch syndrome.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Adaptor Proteins, Signal Transducing,
http://linkedlifedata.com/resource/pubmed/chemical/DNA-Binding Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/G-T mismatch-binding protein,
http://linkedlifedata.com/resource/pubmed/chemical/MLH1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/MSH2 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/MutS Homolog 2 Protein,
http://linkedlifedata.com/resource/pubmed/chemical/Nuclear Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Tumor Markers, Biological
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1532-0979
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
35
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1391-9
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pubmed:meshHeading |
pubmed-meshheading:21836479-Adaptor Proteins, Signal Transducing,
pubmed-meshheading:21836479-Age Factors,
pubmed-meshheading:21836479-Aged,
pubmed-meshheading:21836479-Aged, 80 and over,
pubmed-meshheading:21836479-Chi-Square Distribution,
pubmed-meshheading:21836479-Colorectal Neoplasms, Hereditary Nonpolyposis,
pubmed-meshheading:21836479-DNA Mismatch Repair,
pubmed-meshheading:21836479-DNA Mutational Analysis,
pubmed-meshheading:21836479-DNA-Binding Proteins,
pubmed-meshheading:21836479-Denmark,
pubmed-meshheading:21836479-Female,
pubmed-meshheading:21836479-Genetic Predisposition to Disease,
pubmed-meshheading:21836479-Humans,
pubmed-meshheading:21836479-Immunohistochemistry,
pubmed-meshheading:21836479-Lymphocytes, Tumor-Infiltrating,
pubmed-meshheading:21836479-Male,
pubmed-meshheading:21836479-Microsatellite Instability,
pubmed-meshheading:21836479-Middle Aged,
pubmed-meshheading:21836479-MutS Homolog 2 Protein,
pubmed-meshheading:21836479-Mutation,
pubmed-meshheading:21836479-Necrosis,
pubmed-meshheading:21836479-Neoplasm Staging,
pubmed-meshheading:21836479-Nuclear Proteins,
pubmed-meshheading:21836479-Phenotype,
pubmed-meshheading:21836479-Predictive Value of Tests,
pubmed-meshheading:21836479-Rectum,
pubmed-meshheading:21836479-Registries,
pubmed-meshheading:21836479-Tumor Markers, Biological
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pubmed:year |
2011
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pubmed:articleTitle |
Challenges in the identification of MSH6-associated colorectal cancer: rectal location, less typical histology, and a subset with retained mismatch repair function.
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pubmed:affiliation |
Clinical Research Center, Department of Pathology, Hvidovre Hospital, University of Copenhagen, Hvidovre, Sweden. louise.klarskov@dadlnet.dk
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pubmed:publicationType |
Journal Article
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