Document Detail

MSH-6: extending the reliability of immunohistochemistry as a screening tool in Muir-Torre syndrome.
MedLine Citation:
PMID:  18065960     Owner:  NLM     Status:  MEDLINE    
The subtype of Muir-Torre syndrome, allelic to hereditary nonpolyposis colorectal cancer is typically associated with germline mutations in the mismatch repair proteins MSH-2 and/or MLH-1. More recently, mutation in an additional mismatch repair protein MSH-6 has been documented in a patient with Muir-Torre syndrome. Given this, the aim of the present study was to ascertain the frequency of the same in unselected sebaceous gland neoplasms. Overall, we found that 59% of sebaceous neoplasms exhibited a mutation in at least one mismatch repair protein gene -- a prevalence rate similar to that reported previously by others. Of interest, we found MSH-6 to be the mismatch repair protein most commonly lost 17/41 (41%), followed by MSH-2 14/41 (34%) and MLH-18/41 (20%) and the positive predictive value of each were as follows: MLH-1 88%, MSH-6 67% and MSH-2 55%. The frequency of a MSH-6 germline mutation in our cohort indicates that it is not a rare finding. Evidence indicating microsatellite stability in three of 17 patients with a clinical history indicative of Muir-Torre syndrome and a mutation in only MSH-6 suggests that the phenotype of a germline MSH-6 mutation differs from that of MLH-1 and MSH-2 mutations and further supports the use of immunohistochemistry as a screening tool in patients with Muir-Torre syndrome with an extended panel that includes MSH-6.
Vishes Chhibber; Karen Dresser; Meera Mahalingam
Publication Detail:
Type:  Journal Article     Date:  2007-12-07
Journal Detail:
Title:  Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc     Volume:  21     ISSN:  0893-3952     ISO Abbreviation:  Mod. Pathol.     Publication Date:  2008 Feb 
Date Detail:
Created Date:  2008-01-25     Completed Date:  2008-04-29     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  8806605     Medline TA:  Mod Pathol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  159-64     Citation Subset:  IM    
Department of Pathology, UMass Medical School, Worcester, MA, USA.
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MeSH Terms
Adaptor Proteins, Signal Transducing / genetics,  metabolism
Adenoma / genetics*,  metabolism,  pathology
Aged, 80 and over
Base Pair Mismatch
DNA Mismatch Repair
DNA-Binding Proteins / genetics*,  metabolism
Genetic Testing*
Germ-Line Mutation
Immunohistochemistry / methods*
Microsatellite Repeats
Middle Aged
MutS Homolog 2 Protein / genetics,  metabolism
Neoplastic Syndromes, Hereditary / genetics*,  metabolism,  pathology
Nuclear Proteins / genetics,  metabolism
Sebaceous Gland Neoplasms / genetics*,  metabolism,  pathology
Tumor Markers, Biological
Reg. No./Substance:
0/Adaptor Proteins, Signal Transducing; 0/DNA-Binding Proteins; 0/G-T mismatch-binding protein; 0/MLH1 protein, human; 0/Nuclear Proteins; 0/Tumor Markers, Biological; EC protein, human; EC Homolog 2 Protein

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