Serrated adenomas with a BRAF mutation in a young patient with familial adenomatous polyposis.
Colorectal cancer
Genetic tumor syndrome
Next-generation sequencing
TSA
Journal
International journal of colorectal disease
ISSN: 1432-1262
Titre abrégé: Int J Colorectal Dis
Pays: Germany
ID NLM: 8607899
Informations de publication
Date de publication:
Oct 2020
Oct 2020
Historique:
accepted:
25
05
2020
pubmed:
7
6
2020
medline:
24
6
2021
entrez:
7
6
2020
Statut:
ppublish
Résumé
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. 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*. 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.
Identifiants
pubmed: 32504335
doi: 10.1007/s00384-020-03657-0
pii: 10.1007/s00384-020-03657-0
doi:
Substances chimiques
BRAF protein, human
EC 2.7.11.1
Proto-Oncogene Proteins B-raf
EC 2.7.11.1
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1967-1972Références
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