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