Isfahan University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share this content! On (X network) By
Prevalence of Mismatch Repair-Deficient Colorectal Adenoma/Polyp in Early-Onset, Advanced Cases: A Cross-Sectional Study Based on Iranian Hereditary Colorectal Cancer Registry Publisher Pubmed



Khorram MR1 ; Goshayeshi L2, 3 ; Maghool F4 ; Bergquist R5 ; Ghaffarzadegan K6 ; Eslami S7, 8 ; Khooei A9 ; Hoseini B10
Authors
Show Affiliations
Authors Affiliations
  1. 1. Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
  2. 2. Department of Gastroenterology and Hepatology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
  3. 3. Surgical Oncology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran
  4. 4. Poursina Hakim Digestive Diseases Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
  5. 5. Ingerod, Brastad, SE-454 94, Sweden
  6. 6. Pathology Department, Education and Research Department, Razavi Hospital, Mashhad, Iran
  7. 7. Pharmaceutical Research Center, School of Pharmacy, Mashhad University of Medical Sciences, Mashhad, Iran
  8. 8. Department of Medical Informatics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
  9. 9. Department of Pathology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
  10. 10. Department of Health Information Technology, Neyshabur University of Medical Sciences, Neyshabur, Iran

Source: Journal of Gastrointestinal Cancer Published:2021


Abstract

Background: Lynch syndrome (LS) increases the risk of many types of cancer, mainly colorectal cancer (CRC). The purpose of this study was to assess the prevalence of mismatch repair (MMR) deficiency in patients under the age of 50 with advanced adenomatous polyps, aiming at an early diagnosis of LS. Methods: This retrospective, cross-sectional study included eligible patients with advanced adenomas diagnosed ≤ 50 years of age registered between April 2014 and February 2017 at three pathology centers in Mashhad. Pathological records were reviewed, and colon tissue specimens were analyzed by immunohistochemistry (IHC) staining to identify proteins which serve as markers for LS as they are related to loss of MMR gene (MLH1, MSH2, MSH6, and PMS2) expression. Results: Of 862 consecutive patients, a total of 50 adenomas (54% males, 46% females of mean age 41.24 ± 6.5) met the eligibility criteria. Of the adenomas examined, 20 (40%) had a tubulovillous component, 34 (68%) had high-grade dysplasia, and 30 (60%) had were larger than 10 mm protrusions. None of the patients had loss of MMR protein expression. Conclusion: No individual with MMR genetic disorder was identified by IHC screening of early-onset advanced colorectal adenomas. This strategy is therefore not an effective strategy for detecting MMR mutation carriers. © 2020, Springer Science+Business Media, LLC, part of Springer Nature.
Related Docs
View other Related Docs
1. Lynch-Like Syndrome and Its Molecular Approaches: A Brief Report and Literature Review, Middle East Journal of Cancer (2023)
2. Molecular Analysis of Iranian Colorectal Cancer Patients at Risk for Lynch Syndrome: A New Molecular, Clinicopathological Feature, Journal of Gastrointestinal Cancer (2015)
3. Simplified Microsatellite Instability Detection Protocol Provides Equivalent Sensitivity to Robust Detection Strategies in Lynch Syndrome Patients, Cancer Biology and Medicine (2017)
4. Frequent Novel Variations Within Msh2 and Mlh1 Genes in a Subset of Iranian Families With Hereditary Non-Polyposis Colorectal Cancer, Acta Medica Iranica (2019)
5. Familial Colorectal Cancertype X in Central Iran: A New Clinicopathologic Description, International Journal of Hematology-Oncology and Stem Cell Research (2017)
6. Tumor Microsatellite Instability and Clinicopathologic Features in Iranian Colorectal Cancer Patients at Risk for Lynch Syndrome, Journal of Research in Medical Sciences (2015)
7. Immunohistochemical Analysis of Mismatch Repair Proteins in Iranian Colorectal Cancer Patients at Risk for Lynch Syndrome, Iranian Journal of Cancer Prevention (2015)
8. Evaluation of Mt1xt20 Single Quasi-Monomorphic Mononucleotide Marker for Characterizing Microsatellite Instability in Persian Lynch Syndrome Patients, Asian Pacific Journal of Cancer Prevention (2016)
Experts (# of related papers)
View all Related Experts
Mohammad Hassan Emami (15)
Mehrdad Zeinalian (13)
Other Related Docs
9. Bat25, Acvr2, and Tgfbr2 Mononucleotide Str Markers: A Triplex Panel for Microsatellite Instability Testing in Colorectal Tumors, Advanced Biomedical Research (2022)
10. Gastrointestinal Cancers, Cancer Genetics and Psychotherapy (2017)
11. A Simplified Protocol for Microsatellite Instability Evaluation in Iranian Patients at Risk for Lynch Syndrome, Lab Medicine (2022)
12. Mt1xt20 Single Quasi-Monomorphic Mononucleotide Marker for Detection of Microsatellite Instability in Iranian Patients With Hereditary Nonpolyposis Colorectal Cancer (Hnpcc), Journal of Isfahan Medical School (2016)
13. Relationship Between Common Kras Gene Mutations and Clinicopathological Features of Patients With Colorectal Cancer in Isfahan, Iran, Govaresh (2017)
14. Tp53 Codon 72 Heterozygosity May Promote Microsatellite Instability in Sporadic Colorectal Cancer, Yakhteh (2010)
15. Assessment of Immuno-Histochemical Expression of Mbd1 in Colorectal Adenocarcinoma and Its Correlations With Prognostic Factors, Middle East Journal of Digestive Diseases (2020)
16. Early Detection of Colorectal Cancer: From Conventional Methods to Novel Biomarkers, Journal of Cancer Research and Clinical Oncology (2016)
17. Promoter Methylation of Matrix Metallopeptidase 9 in Peripheral Blood Mononuclear Cells: A Novel Biomarker in a Promising Source for Noninvasive Colorectal Cancer Diagnosis, Journal of Cancer Research and Therapeutics (2023)
18. Tfpi2 and Ndrg4 Gene Promoter Methylation Analysis in Peripheral Blood Mononuclear Cells Are Novel Epigenetic Noninvasive Biomarkers for Colorectal Cancer Diagnosis, Journal of Gene Medicine (2020)
19. Epidemioclinical Feature of Early-Onset Colorectal Cancer At-Risk for Lynch Syndrome in Central Iran, Asian Pacific Journal of Cancer Prevention (2015)
20. Wrn Germline Mutation Is the Likely Inherited Etiology of Various Cancer Types in One Iranian Family, Frontiers in Oncology (2021)
21. Two Novel Mutations in Hmlh1 Gene in Iranian Hereditary Non-Polyposis Colorectal Cancer Patients, Familial Cancer (2012)
22. Association of Neutrophil to Lymphocyte Ratio and Platelet to Lymphocyte Ratio With Tumoral Differentiation in Colorectal Cancer, Gene Reports (2022)
23. Comparison of Dna Instability in Adenoma and Adenocarcinoma in Patients With Colorectal Cancer, Using Random Amplified Polymorphic Dna Polymerase Chain Reaction (Rapd-Pcr), Journal of Isfahan Medical School (2017)
24. Association Between Colorectal Cancer and the Degree of Itga4 Promoter Methylation in Peripheral Blood Mononuclear Cells, Gene Reports (2022)
25. The Frequency of Grasp Gene's Promoter Methylation in Colorectal Cancer Tissue Compared With Healthy Surrounding Tissue, Journal of Isfahan Medical School (2021)
26. Hereditary Nonpolyposis Colorectal Cancer and Familial Colorectal Cancer in Central Part of Iran, Isfahan, Journal of Research in Medical Sciences (2012)
27. Cost-Effectiveness Analysis of Molecular Screening to Identify Lynch Syndrome in the Patients With Colorectal Cancer, International Journal of Cancer Management (2021)
28. The Stromelysin-1 5A/5A Genotype Enhances Colorectal Cancer Cell Invasion in Iranian Population, Journal of Research in Medical Sciences (2012)
29. Evaluation of Promoter Methylation Status of Mlh1 Gene in Iranian Patients With Colorectal Tumors and Adenoma Polyps, Gastroenterology and Hepatology from Bed to Bench (2017)