Introduction Lynch syndrome is one of the most common hereditary cancers associated with germline alterations of DNA mismatch repair genes. Recent advances have shed light on its molecular pathogenesis, leading to the development of various testing strategies. The aim of this study is to evaluate whether all colorectal adenocarcinomas undergo immunohistochemistry (IHC) and microsatellite instability (MSI) testing to identify potential Lynch syndrome patients. Methods This study evaluated the compliance of MSI and IHC testing for Lynch syndrome in a tertiary cancer research centre. All patients undergoing colorectal cancer resection between April 2022 and December 2022 were identified from a prospectively maintained register. The histology, MSI, and IHC testing reports for these patients were recorded to check if they were done and reported. Only patients with colorectal adenocarcinoma were included in this study. Results A total of 314 patients had colorectal cancer resections. A total of 301 were included in the study, with a median age of 65 years (IQR = 35-95). Thirteen (4.14%) patients did not have MSI and IHC testing reported on the system. Of these, eight (61.53%) did not have an MSI/IHC testing request, four (30.76%) did not have sufficient specimens to be sent for further testing, one (7.69%) had MSI and IHC testing but the final report was yet to be authorized. Out of the eight who did not have the testing done, three had early polyp cancer and one had a goblet cell adenocarcinoma. Conclusion According to the data, our hospital has a 97.45% compliance with current guidelines, not considering the insufficient sample for testing and the authorization of the final report. A more comprehensive proforma may be needed to provide a feedback loop for further MSI and IHC testing when entering data into the system. Further auditing is required to check the effectiveness of the proforma in achieving complete compliance.
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http://dx.doi.org/10.7759/cureus.73475 | DOI Listing |
Curr Oncol
December 2024
Unity Health Toronto, University of Toronto, Toronto, ON M5B 1W8, Canada.
Gastric cancer is common globally and has a generally poor prognosis with a low 5-year survival rate. Targeted therapies and immunotherapies have improved the treatment landscape, providing more options for efficacious treatment. The use of these therapies requires predictive biomarker testing to identify patients who can benefit from their use.
View Article and Find Full Text PDFCancer Genet
December 2024
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX. Electronic address:
Impairment of DNA mismatch repair function in neoplasms can be assessed by DNA-based methods to assess for high microsatellite instability (MSI-High) or immunohistochemical (IHC) analysis to assess for deficiency of mismatch repair proteins (dMMR). Neoplasms with mismatch repair deficiency often have high tumor mutational burden (TMB-High). MSI-High, dMMR, and TMB-High are all histology agnostic biomarkers for potential therapy using immune checkpoint inhibitors (ICI).
View Article and Find Full Text PDFCancers (Basel)
November 2024
Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 7RU, UK.
Mismatch repair (MMR) deficiency can be indicative of Lynch syndrome (LS) and guide treatment with immune checkpoint inhibitors. Colorectal cancers (CRCs) and endometrial cancers (ECs) are routinely screened to identify LS, primarily using immunohistochemistry (IHC) or microsatellite instability (MSI) testing, but concordance between these methods is variable in ECs. Here, we investigate this variability in 361 ECs from the Ohio OCCPI/OPTEC ( = 196) and Manchester PETALS ( = 165) trials, where concordance between assays differed significantly.
View Article and Find Full Text PDFJ Cancer
October 2024
National and Local Joint Engineering Research Cente of Biodiagnosis and Biotherapy, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.
As a member of the DExD/H-box RNA helicase family, DHX34 has demonstrated a significant correlation with the development of multiple disorders. Nevertheless, a comprehensive investigation between DHX34 and pan-cancer remains unexplored. We analyzed the value of DHX34 in pan-cancer based on some databases, such as The Cancer Genome Atlas (TCGA), Gene Expression Omnibus (GEO), and The Human Protein Atlas (HPA) by use the R language as well as some online analysis tools, including STRING, TISIDB, TISCH2.
View Article and Find Full Text PDFClin Genet
December 2024
Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA.
Screening for Lynch syndrome (LS) is essential in colorectal carcinoma (CRC) diagnosis. The hallmark of CRC in LS is mismatch repair (MMR) deficiency, a vital biomarkers assessed by microsatellite instability (MSI) analysis and/or immunohistochemistry (IHC) staining of the MMR proteins in the tumor, that also predict response to immune checkpoint inhibitors. We report two LS patients who developed MMR proficient CRCs.
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