Reporting an Iranian Female Patient Suffering from Colorectal Cancer with a Missense Mutation in Exon 2 of MEN1 Gene: An Unusual Case

Document Type : Original Article

Authors

1 Department of Biology, Faculty of Science, University of Sistan and Baluchestan, Zahedan, Iran

2 Ali Ebne Abitaleb Hospital, Department of Surgery, Zahedan University of Medical Sciences, Zahedan, Iran

Abstract

Background: Multiple endocrine neoplasia type 1 (MEN1) is a hereditary condition manifesting as an autosomal dominant genetic pattern. This genetic anomaly is marked by the formation of tumors in diverse endocrine glands, leading to a complex array of clinical manifestations. The correlation between colorectal cancer (CRC) and MEN1 mutations remains unknown. This study aimed to report an Iranian female CRC patient with a MEN1 genetic mutation. Material and method: A 37-year-old female presented to a physician complaining of rectal lesions, tubular adenoma, and rectal adenocarcinoma, suggesting moderately differentiated colorectal adenocarcinoma symptoms. HLA typing was tested for her. Finally, whole exome sequencing (WES) was performed using the patient's DNA. Based on a standard pipeline, the variant was identified and interpreted. Results: The findings demonstrated a known heterozygous missense mutation in the exon 2 of the MEN1 gene, g.64577373T-G, c.209A>C, p.Asp70Ala in the patients which has a variant uncertain significant (VUS) pathogenicity. She also had no celiac disease (HLA-DQ2/DQ8 genotypes are negative). Conclusion: The correlation between the identified genotype and the anatomical phenotype of the patient suggested that the identified variant can lead to colorectal abnormalities in the patient, contributing to the distinctive features of MEN1 disease. Understanding the underlying genetic mechanisms is important for diagnosing and treating this condition.

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Journal of Epigenetics
Volume 4, Issue 2 - Serial Number 2
December 2023
Pages 46-53

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History

  • Receive Date: 18 November 2023
  • Revise Date: 20 December 2023
  • Accept Date: 23 December 2023

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