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Prevalence of Mismatch Repair-Deficient Colorectal Adenoma/Polyp in Early-Onset, Advanced Cases: a Cross-Sectional Study Based on Iranian Hereditary Colorectal Cancer Registry

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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.

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Data will be available upon request.

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Acknowledgements

The authors would like to thank all study participants.

Funding

This study was funded by Mashhad University of Medical Sciences (Grant number 951047).

Author information

Author notes

  1. Mahla Rahmani Khorram and Ladan Goshayeshi contributed equally as joint lead authors.

Authors and Affiliations

  1. Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

    Mahla Rahmani Khorram

  2. Department of Gastroenterology and Hepatology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

    Ladan Goshayeshi

  3. Surgical Oncology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran

    Ladan Goshayeshi

  4. Poursina Hakim Digestive Diseases Research Center, Isfahan University of Medical Sciences, Isfahan, Iran

    Fatemeh Maghool

  5. Ingerod, SE-454 94, Brastad, Sweden

    Robert Bergquist

  6. Pathology Department, Education and Research Department, Razavi Hospital, Mashhad, Iran

    Kamran Ghaffarzadegan

  7. Pharmaceutical Research Center, School of Pharmacy, Mashhad University of Medical Sciences, Mashhad, Iran

    Saeid Eslami

  8. Department of Medical Informatics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands

    Saeid Eslami

  9. Department of Pathology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

    Alireza Khooei

  10. Department of Health Information Technology, Neyshabur University of Medical Sciences, Neyshabur, Iran

    Benyamin Hoseini

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  1. Mahla Rahmani Khorram
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Contributions

All authors contributed to the study conception and design. Material preparation, data collection, and analysis were performed by Benyamin Hoseini, Ladan Goshayeshi, and Mahla Rahmani Khorram.

The first draft of the manuscript was written by Mahla Rahmani Khorram and Fatemeh Maghool and then edited by Benyamin Hoseini. All authors commented on previous versions of the manuscript and approved the final manuscript.

Corresponding author

Correspondence to Benyamin Hoseini.

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Conflict of Interest

The authors declare that they have no conflict of interest.

Ethical Approval and Consent to Participate

Ethical approval was obtained from the ethics committee of Mashhad University of Medical Sciences (IR.MUMS.fm.REC.1396.240), and the study has been performed in accordance with the ethical standards as laid down in the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards. Informed consent was obtained from all participants before interviewing and/or testing.

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Khorram, M.R., Goshayeshi, L., Maghool, F. et al. Prevalence of Mismatch Repair-Deficient Colorectal Adenoma/Polyp in Early-Onset, Advanced Cases: a Cross-Sectional Study Based on Iranian Hereditary Colorectal Cancer Registry. J Gastrointest Canc 52, 263–268 (2021). https://doi.org/10.1007/s12029-020-00395-y

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