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Mismatch repair deficiency in Lynch syndrome-associated colorectal adenomas is more prevalent in older patients.
- Source :
-
Histopathology [Histopathology] 2016 Aug; Vol. 69 (2), pp. 322-8. Date of Electronic Publication: 2016 Mar 21. - Publication Year :
- 2016
-
Abstract
- Aims: The aim of this study was to examine the expression of mismatch repair (MMR) proteins in Lynch syndrome (LS)-associated colorectal adenomas and to evaluate their relationship with clinicopathological variables and potential utility in LS screening.<br />Methods and Results: We performed immunohistochemistry for MLH1, PMS2, MSH2 and MSH6 in 134 adenomas obtained from 26 genetically confirmed LS patients. MMR deficiency, as determined by loss of any MMR protein, was observed in 113 adenomas (84%). All the MMR-deficient adenomas exhibited homogeneous loss of MMR proteins, which reflected underlying germline mutations. MMR deficiency was more frequent in adenomas obtained from older patients (aged ≥60 years; 81 of 86, 94%), with larger tumour size (>5 mm; 71 of 73, 97%) and with high-grade dysplasia (50 of 51, 98%). Multivariate analyses indicated that increased age and larger tumour size were associated independently with MMR deficiency.<br />Conclusions: This study shows that MMR deficiency is associated significantly with increased age, in addition to two previously reported factors-larger size and high-grade dysplasia. When adenomas are analysed during LS screening, high sensitivity is expected if the adenomas are associated with any of these three factors.<br /> (© 2016 John Wiley & Sons Ltd.)
- Subjects :
- Adenoma diagnosis
Adult
Age Factors
Aged
Aged, 80 and over
Biomarkers, Tumor genetics
Brain Neoplasms diagnosis
Colorectal Neoplasms diagnosis
Colorectal Neoplasms, Hereditary Nonpolyposis metabolism
DNA Mismatch Repair
DNA-Binding Proteins genetics
DNA-Binding Proteins metabolism
Germ-Line Mutation
Humans
Immunohistochemistry
Middle Aged
Mismatch Repair Endonuclease PMS2 genetics
Mismatch Repair Endonuclease PMS2 metabolism
MutL Protein Homolog 1 genetics
MutL Protein Homolog 1 metabolism
MutS Homolog 2 Protein genetics
MutS Homolog 2 Protein metabolism
Neoplastic Syndromes, Hereditary diagnosis
Prevalence
Adenoma genetics
Biomarkers, Tumor metabolism
Brain Neoplasms genetics
Colorectal Neoplasms genetics
Colorectal Neoplasms, Hereditary Nonpolyposis diagnosis
Neoplastic Syndromes, Hereditary genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1365-2559
- Volume :
- 69
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Histopathology
- Publication Type :
- Academic Journal
- Accession number :
- 26826556
- Full Text :
- https://doi.org/10.1111/his.12941