| Deficient DNA mismatch repair is common in Lynch syndrome-associated colorectal adenomas. | |
| | |
MedLine Citation:
|
PMID: 19324997 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Lynch syndrome is caused by germline mutations in DNA mismatch repair (MMR) genes. Both microsatellite instability (MSI) testing and immunohistochemical analyses (IHC) of colon cancers are valuable diagnostic strategies for Lynch syndrome. We sought to determine whether these markers of MMR deficiency were also detectable in pre-cancerous colorectal adenomas. Fifteen subjects with a germline MMR gene mutation who had 44 adenomas removed during surveillance colonoscopy were identified. MSI testing and IHC for MLH1, MSH2, and MSH6 were performed. MSI was detected in 23 adenomas. There was a significant association between MSI and high-grade dysplasia (P = 0.006) and distal location (P = 0.0008). Loss of MMR protein by IHC was detected in 31 adenomas. A significant association was observed between loss of staining by IHC and high-grade dysplasia (P = 0.04). Among the 40 adenomas in which both MSI tests and IHC were performed, the presence of a germline mutation correlated with an abnormal MSI result in 58% of cases, an abnormal IHC result in 70% of cases, and either an abnormal MSI or IHC result in 73% of cases. The combination of MSI and IHC testing in colorectal adenomas is a sensitive screen for the detection of Lynch syndrome and may be particularly useful when Lynch syndrome is suspected and adenomatous polyps are the only tissues available for analysis. |
| | |
Authors:
|
Maria Simona Pino; Mari Mino-Kenudson; Bernadette Mandes Wildemore; Aniruddha Ganguly; Julie Batten; Isabella Sperduti; Anthony John Iafrate; Daniel C Chung |
Related Documents
:
|
9510447 - Fish analysis in patients with clinical diagnosis of williams syndrome. 11920837 - Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2... 18551317 - Clinical and molecular genetic findings in a 6-year-old bosnian boy with triple a syndr... 20931227 - Two siblings with triple a syndrome and novel mutation presenting as hereditary polyneu... 16532987 - Poland's syndrome: report of a variant. 18931957 - Familial non-medullary thyroid carcinoma: an update. |
Publication Detail:
|
Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't Date: 2009-03-26 |
Journal Detail:
|
Title: The Journal of molecular diagnostics : JMD Volume: 11 ISSN: 1943-7811 ISO Abbreviation: J Mol Diagn Publication Date: 2009 May |
Date Detail:
|
Created Date: 2009-04-24 Completed Date: 2009-06-17 Revised Date: 2010-09-23 |
Medline Journal Info:
|
Nlm Unique ID: 100893612 Medline TA: J Mol Diagn Country: United States |
Other Details:
|
Languages: eng Pagination: 238-47 Citation Subset: IM |
Affiliation:
|
Gastrointestinal Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adenomatous Polyps
/
complications*,
genetics,
pathology Adult Aged Colorectal Neoplasms, Hereditary Nonpolyposis / complications*, genetics, pathology DNA Mismatch Repair* Female Humans Hyperplasia Immunohistochemistry Male Microsatellite Instability Middle Aged |
| Grant Support | |
ID/Acronym/Agency:
|
CA92594/CA/NCI NIH HHS |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Hereditary Apolipoprotein AI-Associated Amyloidosis in Surgical Pathology Specimens: Identification ...
Next Document: Carbohydrate response element binding protein gene expression is positively regulated by thyroid hor...