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

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Abstract

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).

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Global Cancer Statistics 2018: GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries

Ahmedin Jemal, Lindsey A Torre, Rebecca Siegel … (2018)

This article provides a status report on the global burden of cancer worldwide using the GLOBOCAN 2018 estimates of cancer incidence and mortality produced by the International Agency for Research on Cancer, with a focus on geographic variability across 20 world regions. There will be an estimated 18.1 million new cancer cases (17.0 million excluding nonmelanoma skin cancer) and 9.6 million cancer deaths (9.5 million excluding nonmelanoma skin cancer) in 2018. In both sexes combined, lung cancer is the most commonly diagnosed cancer (11.6% of the total cases) and the leading cause of cancer death (18.4% of the total cancer deaths), closely followed by female breast cancer (11.6%), prostate cancer (7.1%), and colorectal cancer (6.1%) for incidence and colorectal cancer (9.2%), stomach cancer (8.2%), and liver cancer (8.2%) for mortality. Lung cancer is the most frequent cancer and the leading cause of cancer death among males, followed by prostate and colorectal cancer (for incidence) and liver and stomach cancer (for mortality). Among females, breast cancer is the most commonly diagnosed cancer and the leading cause of cancer death, followed by colorectal and lung cancer (for incidence), and vice versa (for mortality); cervical cancer ranks fourth for both incidence and mortality. The most frequently diagnosed cancer and the leading cause of cancer death, however, substantially vary across countries and within each country depending on the degree of economic development and associated social and life style factors. It is noteworthy that high-quality cancer registry data, the basis for planning and implementing evidence-based cancer control programs, are not available in most low- and middle-income countries. The Global Initiative for Cancer Registry Development is an international partnership that supports better estimation, as well as the collection and use of local data, to prioritize and evaluate national cancer control efforts. CA: A Cancer Journal for Clinicians 2018;0:1-31. © 2018 American Cancer Society.

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Occurrence of the potent mutagens 2- nitrobenzanthrone and 3-nitrobenzanthrone in fine airborne particles

Aldenor Santos, Gisele O. da Rocha, Jailson de Andrade (2019)

Polycyclic aromatic compounds (PACs) are known due to their mutagenic activity. Among them, 2-nitrobenzanthrone (2-NBA) and 3-nitrobenzanthrone (3-NBA) are considered as two of the most potent mutagens found in atmospheric particles. In the present study 2-NBA, 3-NBA and selected PAHs and Nitro-PAHs were determined in fine particle samples (PM 2.5) collected in a bus station and an outdoor site. The fuel used by buses was a diesel-biodiesel (96:4) blend and light-duty vehicles run with any ethanol-to-gasoline proportion. The concentrations of 2-NBA and 3-NBA were, on average, under 14.8 µg g−1 and 4.39 µg g−1, respectively. In order to access the main sources and formation routes of these compounds, we performed ternary correlations and multivariate statistical analyses. The main sources for the studied compounds in the bus station were diesel/biodiesel exhaust followed by floor resuspension. In the coastal site, vehicular emission, photochemical formation and wood combustion were the main sources for 2-NBA and 3-NBA as well as the other PACs. Incremental lifetime cancer risk (ILCR) were calculated for both places, which presented low values, showing low cancer risk incidence although the ILCR values for the bus station were around 2.5 times higher than the ILCR from the coastal site.

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Comprehensive Molecular Characterization of Human Colon and Rectal Cancer

Nikolaus Schultz (2014)

Summary To characterize somatic alterations in colorectal carcinoma (CRC), we conducted genome-scale analysis of 276 samples, analyzing exome sequence, DNA copy number, promoter methylation, mRNA and microRNA expression. A subset (97) underwent low-depth-of-coverage whole-genome sequencing. 16% of CRC have hypermutation, three quarters of which have the expected high microsatellite instability (MSI), usually with hypermethylation and MLH1 silencing, but one quarter has somatic mismatch repair gene mutations. Excluding hypermutated cancers, colon and rectum cancers have remarkably similar patterns of genomic alteration. Twenty-four genes are significantly mutated. In addition to the expected APC, TP53, SMAD4, PIK3CA and KRAS mutations, we found frequent mutations in ARID1A, SOX9, and FAM123B/WTX. Recurrent copy number alterations include potentially drug-targetable amplifications of ERBB2 and newly discovered amplification of IGF2. Recurrent chromosomal translocations include fusion of NAV2 and WNT pathway member TCF7L1. Integrative analyses suggest new markers for aggressive CRC and important role for MYC-directed transcriptional activation and repression.

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Author and article information

Contributors

Kieran Sheahan: ksheahan@svhg.ie

Journal

Journal ID (nlm-ta): Sci Rep

Journal ID (iso-abbrev): Sci Rep

Title: Scientific Reports

Publisher: Nature Publishing Group UK (London )

ISSN (Electronic): 2045-2322

Publication date (Electronic): 29 June 2022

Publication date PMC-release: 29 June 2022

Publication date Collection: 2022

Volume: 12

Electronic Location Identifier: 10998

Affiliations

[1 ]GRID grid.254147.1, ISNI 0000 0000 9776 7793, Biomedical Informatics Research Lab, School of Basic Medicine and Clinical Pharmacy, , China Pharmaceutical University, ; Nanjing, China

[2 ]GRID grid.254147.1, ISNI 0000 0000 9776 7793, Cancer Genomics Research Center, School of Basic Medicine and Clinical Pharmacy, , China Pharmaceutical University, ; Nanjing, China

[3 ]GRID grid.254147.1, ISNI 0000 0000 9776 7793, Big Data Research Institute, China Pharmaceutical University, ; Nanjing, 211198 China

[4 ]GRID grid.411683.9, ISNI 0000 0001 0083 8856, Department of Pharmacology, Faculty of Pharmacy, , University of Gezira, ; P.O. Box: 20, Wad Madani, Sudan

[5 ]GRID grid.412751.4, ISNI 0000 0001 0315 8143, Department of Pathology, , Centre for Colorectal Disease, St. Vincent’s University Hospital, ; Dublin 4, Ireland

[6 ]Department of Histopathology, Soba University Hospital, Khartoum, Sudan

[7 ]GRID grid.411683.9, ISNI 0000 0001 0083 8856, Department of Pathology, Faculty of Medicine, , University of Gezira, ; P.O. Box: 20, Wad Madani, Sudan

[8 ]Department of Surgery, Soba University Hospital, Khartoum, Sudan

[9 ]Department of Histopathology, Ibn Sina Specialized Hospital, Khartoum, Sudan

[10 ]GRID grid.411683.9, ISNI 0000 0001 0083 8856, Department of Oncology, , National Cancer Institute, University of Gezira, ; P.O. Box: 20, Wad Madani, Sudan

[11 ]Department of Oncology, Khartoum Oncology Hospital, Khartoum, Sudan

[12 ]GRID grid.411683.9, ISNI 0000 0001 0083 8856, Department of Surgery, Faculty of Medicine, , University of Gezira, ; P.O. Box: 20, Wad Madani, Sudan

[13 ]GRID grid.412751.4, ISNI 0000 0001 0315 8143, Department of Surgery, , Centre for Colorectal Disease, St. Vincent’s University Hospital, ; Dublin, Ireland

[14 ]GRID grid.417704.1, ISNI 0000 0004 0400 5212, Hull Royal Infirmary, Hull University Hospital NHS Trust, ; Hull, East Yorkshire UK

[15 ]GRID grid.7886.1, ISNI 0000 0001 0768 2743, School of Medicine and Medical Sciences, , University College Dublin, ; Belfield, Dublin 4, Ireland

Article

Publisher ID: 14644

DOI: 10.1038/s41598-022-14644-6

PMC ID: 9243080

PubMed ID: 35768447

SO-VID: 98dbaed0-2d56-4853-93e3-51a545141472

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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/.

History

Date received : 29 December 2021

Date accepted : 9 June 2022

Funding

Funded by: Centre for Colorectal Disease at St Vincent’s University Hospital

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ScienceOpen disciplines: Uncategorized

Keywords: cancer,genetics,gastroenterology,health care,oncology

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ScienceOpen disciplines: Uncategorized

Keywords: cancer, genetics, gastroenterology, health care, oncology

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

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Research from Sudan

Most cited references 34

Global Cancer Statistics 2018: GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries

Occurrence of the potent mutagens 2- nitrobenzanthrone and 3-nitrobenzanthrone in fine airborne particles

Comprehensive Molecular Characterization of Human Colon and Rectal Cancer

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