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Serrated adenomas with a BRAF mutation in a young patient with familial adenomatous polyposis

  • Case Report
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International Journal of Colorectal Disease Aims and scope Submit manuscript

Abstract

Introduction

Familial adenomatous polyposis (FAP) is typically characterized by more than hundred adenomatous polyps in the colorectum, caused by germline APC mutation. A small proportion of the polyps progress to colorectal adenocarcinoma via adenoma-carcinoma sequence. Serrated lesions and polyps, characterized by a serrated architecture of the epithelium, are noted for two types of genetic pathways in colorectal carcinogenesis. BRAF and KRAS mutations are observed in the serrated pathway.

Case Report

We report a young FAP patient with rectal serrated adenomas that were removed by colonoscopic procedures. The histological features with villiform projections and slit-like serration indicated traditional serrated adenoma. A genetic examination with next-generation sequencing showed a somatic BRAF mutation in the serrated adenoma and APC mutations in the tubular adenomas. His germline mutation was found at APC p.Q1928fs*.

Conclusion

Serrated adenomas with dual genetic alterations in a FAP patient may be associated with colorectal carcinogenesis and should be considered a target lesion for treatment. The present study demonstrated the malignant potential of serrated adenoma in a FAP patient.

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Data availability

All datasets for this work are included in the manuscript and supplementary files.

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Acknowledgments

The authors thank Nobue Tamamura for her contribution to the genomic experiments.

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Correspondence to Hiroki Tanabe.

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The present study was approved by Asahikawa Medical University Research Ethics Committee.

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Moriichi, K., Tanabe, H., Ono, Y. et al. Serrated adenomas with a BRAF mutation in a young patient with familial adenomatous polyposis. Int J Colorectal Dis 35, 1967–1972 (2020). https://doi.org/10.1007/s00384-020-03657-0

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  • DOI: https://doi.org/10.1007/s00384-020-03657-0

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