Cargando…

Evaluating utility and feasibility of mismatch repair testing of colorectal cancer patients in a low-middle-income country

Molecular pathology services for colorectal cancer (CRC) in Sudan represent a significant unmet clinical need. In a retrospective cohort study involving 50 patients diagnosed with CRC at three major medical settings in Sudan, we aimed to outline the introduction of a molecular genetic service for CR...

Descripción completa

Detalles Bibliográficos
Autores principales: Elsayed, Inas, Geraghty, Robert, Mekki, Salwa O., Mohamedani, Ahmed A., Ahern, Susan, Salim, Omer E. H., Khalil, Balgis B. M., Abdelrahim, Sawsan, Suliman, Suliman H., Elhassan, Moawia M. A., Salah, Salah O., Salih, Mohamed E., Widatalla, Abubakr H., Abdelhamed, Osman S., Wang, Xiaosheng, Ryan, Éanna J., Winter, Des, Bakhiet, Salih, Sheahan, Kieran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9243080/
https://www.ncbi.nlm.nih.gov/pubmed/35768447
http://dx.doi.org/10.1038/s41598-022-14644-6
_version_ 1784738224888872960
author Elsayed, Inas
Geraghty, Robert
Mekki, Salwa O.
Mohamedani, Ahmed A.
Ahern, Susan
Salim, Omer E. H.
Khalil, Balgis B. M.
Abdelrahim, Sawsan
Suliman, Suliman H.
Elhassan, Moawia M. A.
Salah, Salah O.
Salih, Mohamed E.
Widatalla, Abubakr H.
Abdelhamed, Osman S.
Wang, Xiaosheng
Ryan, Éanna J.
Winter, Des
Bakhiet, Salih
Sheahan, Kieran
author_facet Elsayed, Inas
Geraghty, Robert
Mekki, Salwa O.
Mohamedani, Ahmed A.
Ahern, Susan
Salim, Omer E. H.
Khalil, Balgis B. M.
Abdelrahim, Sawsan
Suliman, Suliman H.
Elhassan, Moawia M. A.
Salah, Salah O.
Salih, Mohamed E.
Widatalla, Abubakr H.
Abdelhamed, Osman S.
Wang, Xiaosheng
Ryan, Éanna J.
Winter, Des
Bakhiet, Salih
Sheahan, Kieran
author_sort Elsayed, Inas
collection PubMed
description Molecular pathology services for colorectal cancer (CRC) in Sudan represent a significant unmet clinical need. In a retrospective cohort study involving 50 patients diagnosed with CRC at three major medical settings in Sudan, we aimed to outline the introduction of a molecular genetic service for CRC in Sudan, and to explore the CRC molecular features and their relationship to patient survival and clinicopathological characteristics. Mismatch repair (MMR) and BRAF (V600E) mutation status were determined by immunohistochemistry. A mismatch repair deficient (dMMR) subtype was demonstrated in 16% of cases, and a presumptive Lynch Syndrome (LS) diagnosis was made in up to 14% of patients. dMMR CRC in Sudan is characterized by younger age at diagnosis and a higher incidence of right-sided tumours. We report a high mortality in Sudanese CRC patients, which correlates with advanced disease stage, and MMR status. Routine MMR immunohistochemistry (with sequential BRAF mutation analysis) is a feasible CRC prognostic and predictive molecular biomarker, as well as a screening tool for LS in low-middle-income countries (LMICs).
format Online
Article
Text
id pubmed-9243080
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Nature Publishing Group UK
record_format MEDLINE/PubMed
spelling pubmed-92430802022-07-01 Evaluating utility and feasibility of mismatch repair testing of colorectal cancer patients in a low-middle-income country Elsayed, Inas Geraghty, Robert Mekki, Salwa O. Mohamedani, Ahmed A. Ahern, Susan Salim, Omer E. H. Khalil, Balgis B. M. Abdelrahim, Sawsan Suliman, Suliman H. Elhassan, Moawia M. A. Salah, Salah O. Salih, Mohamed E. Widatalla, Abubakr H. Abdelhamed, Osman S. Wang, Xiaosheng Ryan, Éanna J. Winter, Des Bakhiet, Salih Sheahan, Kieran Sci Rep Article Molecular pathology services for colorectal cancer (CRC) in Sudan represent a significant unmet clinical need. In a retrospective cohort study involving 50 patients diagnosed with CRC at three major medical settings in Sudan, we aimed to outline the introduction of a molecular genetic service for CRC in Sudan, and to explore the CRC molecular features and their relationship to patient survival and clinicopathological characteristics. Mismatch repair (MMR) and BRAF (V600E) mutation status were determined by immunohistochemistry. A mismatch repair deficient (dMMR) subtype was demonstrated in 16% of cases, and a presumptive Lynch Syndrome (LS) diagnosis was made in up to 14% of patients. dMMR CRC in Sudan is characterized by younger age at diagnosis and a higher incidence of right-sided tumours. We report a high mortality in Sudanese CRC patients, which correlates with advanced disease stage, and MMR status. Routine MMR immunohistochemistry (with sequential BRAF mutation analysis) is a feasible CRC prognostic and predictive molecular biomarker, as well as a screening tool for LS in low-middle-income countries (LMICs). Nature Publishing Group UK 2022-06-29 /pmc/articles/PMC9243080/ /pubmed/35768447 http://dx.doi.org/10.1038/s41598-022-14644-6 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Article
Elsayed, Inas
Geraghty, Robert
Mekki, Salwa O.
Mohamedani, Ahmed A.
Ahern, Susan
Salim, Omer E. H.
Khalil, Balgis B. M.
Abdelrahim, Sawsan
Suliman, Suliman H.
Elhassan, Moawia M. A.
Salah, Salah O.
Salih, Mohamed E.
Widatalla, Abubakr H.
Abdelhamed, Osman S.
Wang, Xiaosheng
Ryan, Éanna J.
Winter, Des
Bakhiet, Salih
Sheahan, Kieran
Evaluating utility and feasibility of mismatch repair testing of colorectal cancer patients in a low-middle-income country
title Evaluating utility and feasibility of mismatch repair testing of colorectal cancer patients in a low-middle-income country
title_full Evaluating utility and feasibility of mismatch repair testing of colorectal cancer patients in a low-middle-income country
title_fullStr Evaluating utility and feasibility of mismatch repair testing of colorectal cancer patients in a low-middle-income country
title_full_unstemmed Evaluating utility and feasibility of mismatch repair testing of colorectal cancer patients in a low-middle-income country
title_short Evaluating utility and feasibility of mismatch repair testing of colorectal cancer patients in a low-middle-income country
title_sort evaluating utility and feasibility of mismatch repair testing of colorectal cancer patients in a low-middle-income country
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9243080/
https://www.ncbi.nlm.nih.gov/pubmed/35768447
http://dx.doi.org/10.1038/s41598-022-14644-6
work_keys_str_mv AT elsayedinas evaluatingutilityandfeasibilityofmismatchrepairtestingofcolorectalcancerpatientsinalowmiddleincomecountry
AT geraghtyrobert evaluatingutilityandfeasibilityofmismatchrepairtestingofcolorectalcancerpatientsinalowmiddleincomecountry
AT mekkisalwao evaluatingutilityandfeasibilityofmismatchrepairtestingofcolorectalcancerpatientsinalowmiddleincomecountry
AT mohamedaniahmeda evaluatingutilityandfeasibilityofmismatchrepairtestingofcolorectalcancerpatientsinalowmiddleincomecountry
AT ahernsusan evaluatingutilityandfeasibilityofmismatchrepairtestingofcolorectalcancerpatientsinalowmiddleincomecountry
AT salimomereh evaluatingutilityandfeasibilityofmismatchrepairtestingofcolorectalcancerpatientsinalowmiddleincomecountry
AT khalilbalgisbm evaluatingutilityandfeasibilityofmismatchrepairtestingofcolorectalcancerpatientsinalowmiddleincomecountry
AT abdelrahimsawsan evaluatingutilityandfeasibilityofmismatchrepairtestingofcolorectalcancerpatientsinalowmiddleincomecountry
AT sulimansulimanh evaluatingutilityandfeasibilityofmismatchrepairtestingofcolorectalcancerpatientsinalowmiddleincomecountry
AT elhassanmoawiama evaluatingutilityandfeasibilityofmismatchrepairtestingofcolorectalcancerpatientsinalowmiddleincomecountry
AT salahsalaho evaluatingutilityandfeasibilityofmismatchrepairtestingofcolorectalcancerpatientsinalowmiddleincomecountry
AT salihmohamede evaluatingutilityandfeasibilityofmismatchrepairtestingofcolorectalcancerpatientsinalowmiddleincomecountry
AT widatallaabubakrh evaluatingutilityandfeasibilityofmismatchrepairtestingofcolorectalcancerpatientsinalowmiddleincomecountry
AT abdelhamedosmans evaluatingutilityandfeasibilityofmismatchrepairtestingofcolorectalcancerpatientsinalowmiddleincomecountry
AT wangxiaosheng evaluatingutilityandfeasibilityofmismatchrepairtestingofcolorectalcancerpatientsinalowmiddleincomecountry
AT ryaneannaj evaluatingutilityandfeasibilityofmismatchrepairtestingofcolorectalcancerpatientsinalowmiddleincomecountry
AT winterdes evaluatingutilityandfeasibilityofmismatchrepairtestingofcolorectalcancerpatientsinalowmiddleincomecountry
AT bakhietsalih evaluatingutilityandfeasibilityofmismatchrepairtestingofcolorectalcancerpatientsinalowmiddleincomecountry
AT sheahankieran evaluatingutilityandfeasibilityofmismatchrepairtestingofcolorectalcancerpatientsinalowmiddleincomecountry