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Characterization and clinical evaluation of microsatellite instability and loss of heterozygosity within tumor-related genes in colorectal cancer

BACKGROUND: Microsatellite instability (MSI) is a biomarker for better outcomes in colorectal cancer (CRC). However, this conclusion is controversial. In addition, MSs can be a useful marker for loss of heterozygosity (LOH) of genes, but this finding has not been well studied. Here, we aimed to clar...

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Autores principales: Huo, Xueyun, Feng, Dandan, Zhang, Shuangyue, Li, Zhenkun, Li, Xiaohong, Li, Changlong, Guo, Meng, Wang, Jin, Zhang, Zhongtao, Lu, Qingxian, Du, Xiaoyan, Bai, Zhigang, Chen, Zhenwen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8466986/
https://www.ncbi.nlm.nih.gov/pubmed/34563193
http://dx.doi.org/10.1186/s12920-021-01051-5
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author Huo, Xueyun
Feng, Dandan
Zhang, Shuangyue
Li, Zhenkun
Li, Xiaohong
Li, Changlong
Guo, Meng
Wang, Jin
Zhang, Zhongtao
Lu, Qingxian
Du, Xiaoyan
Bai, Zhigang
Chen, Zhenwen
author_facet Huo, Xueyun
Feng, Dandan
Zhang, Shuangyue
Li, Zhenkun
Li, Xiaohong
Li, Changlong
Guo, Meng
Wang, Jin
Zhang, Zhongtao
Lu, Qingxian
Du, Xiaoyan
Bai, Zhigang
Chen, Zhenwen
author_sort Huo, Xueyun
collection PubMed
description BACKGROUND: Microsatellite instability (MSI) is a biomarker for better outcomes in colorectal cancer (CRC). However, this conclusion is controversial. In addition, MSs can be a useful marker for loss of heterozygosity (LOH) of genes, but this finding has not been well studied. Here, we aimed to clarify the predictive value of MSI/LOH within tumor-related genes in CRC. METHODS: We detected MSI/LOH of MSs in tumor-related genes and the Bethesda (B5) panel by STR scanning and cloning/sequencing. We further analyzed the relationship between MSI/LOH status and clinical features or outcomes by Pearson’s Chi-square test, Fisher’s exact test and the Kaplan–Meier method. RESULTS: The findings indicated that the MSI rates of B5 loci were all higher than those of loci in tumor-related genes. Interestingly, MSI/LOH of 2 loci in the B5 panel and 12 loci in tumor-related genes were associated with poorer outcomes, while MSI/LOH of the B5 panel failed to predict outcomes in CRC. MSI of BAT25, MSI/LOH of BAT26 and MSI of the B5 panel showed closer relationships with mucinous carcinoma. In addition, LOH-H of the B5 panel was associated with increased lymphatic metastasis. CONCLUSIONS: In summary, MSI/LOH of certain loci or the whole panel of B5 is related to clinical features, and several loci within tumor-related genes showed prognostic value in the outcomes of CRC. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12920-021-01051-5.
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spelling pubmed-84669862021-09-27 Characterization and clinical evaluation of microsatellite instability and loss of heterozygosity within tumor-related genes in colorectal cancer Huo, Xueyun Feng, Dandan Zhang, Shuangyue Li, Zhenkun Li, Xiaohong Li, Changlong Guo, Meng Wang, Jin Zhang, Zhongtao Lu, Qingxian Du, Xiaoyan Bai, Zhigang Chen, Zhenwen BMC Med Genomics Research Article BACKGROUND: Microsatellite instability (MSI) is a biomarker for better outcomes in colorectal cancer (CRC). However, this conclusion is controversial. In addition, MSs can be a useful marker for loss of heterozygosity (LOH) of genes, but this finding has not been well studied. Here, we aimed to clarify the predictive value of MSI/LOH within tumor-related genes in CRC. METHODS: We detected MSI/LOH of MSs in tumor-related genes and the Bethesda (B5) panel by STR scanning and cloning/sequencing. We further analyzed the relationship between MSI/LOH status and clinical features or outcomes by Pearson’s Chi-square test, Fisher’s exact test and the Kaplan–Meier method. RESULTS: The findings indicated that the MSI rates of B5 loci were all higher than those of loci in tumor-related genes. Interestingly, MSI/LOH of 2 loci in the B5 panel and 12 loci in tumor-related genes were associated with poorer outcomes, while MSI/LOH of the B5 panel failed to predict outcomes in CRC. MSI of BAT25, MSI/LOH of BAT26 and MSI of the B5 panel showed closer relationships with mucinous carcinoma. In addition, LOH-H of the B5 panel was associated with increased lymphatic metastasis. CONCLUSIONS: In summary, MSI/LOH of certain loci or the whole panel of B5 is related to clinical features, and several loci within tumor-related genes showed prognostic value in the outcomes of CRC. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12920-021-01051-5. BioMed Central 2021-09-25 /pmc/articles/PMC8466986/ /pubmed/34563193 http://dx.doi.org/10.1186/s12920-021-01051-5 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis 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/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research Article
Huo, Xueyun
Feng, Dandan
Zhang, Shuangyue
Li, Zhenkun
Li, Xiaohong
Li, Changlong
Guo, Meng
Wang, Jin
Zhang, Zhongtao
Lu, Qingxian
Du, Xiaoyan
Bai, Zhigang
Chen, Zhenwen
Characterization and clinical evaluation of microsatellite instability and loss of heterozygosity within tumor-related genes in colorectal cancer
title Characterization and clinical evaluation of microsatellite instability and loss of heterozygosity within tumor-related genes in colorectal cancer
title_full Characterization and clinical evaluation of microsatellite instability and loss of heterozygosity within tumor-related genes in colorectal cancer
title_fullStr Characterization and clinical evaluation of microsatellite instability and loss of heterozygosity within tumor-related genes in colorectal cancer
title_full_unstemmed Characterization and clinical evaluation of microsatellite instability and loss of heterozygosity within tumor-related genes in colorectal cancer
title_short Characterization and clinical evaluation of microsatellite instability and loss of heterozygosity within tumor-related genes in colorectal cancer
title_sort characterization and clinical evaluation of microsatellite instability and loss of heterozygosity within tumor-related genes in colorectal cancer
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8466986/
https://www.ncbi.nlm.nih.gov/pubmed/34563193
http://dx.doi.org/10.1186/s12920-021-01051-5
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