Duodenal Foveolar Adenoma Case Presentation with Whole Exome Sequencing and Review of the Literature : [case report] /
Introduction: Duodenal adenomas are most commonly associated with polyposis syndromes. Foveolar adenoma is an especially rare entity with an unknown aetiology. We present a case of duodenal foveolar adenoma with coexisting metaplasia, whole exome sequencing results, and the first literature review.C...
Elmentve itt :
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| Dokumentumtípus: | Cikk |
| Megjelent: |
2025
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| Sorozat: | PATHOBIOLOGY
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| Tárgyszavak: | |
| doi: | 10.1159/000546139 |
| mtmt: | 36169705 |
| Online Access: | http://publicatio.bibl.u-szeged.hu/37419 |
| Tartalmi kivonat: | Introduction: Duodenal adenomas are most commonly associated with polyposis syndromes. Foveolar adenoma is an especially rare entity with an unknown aetiology. We present a case of duodenal foveolar adenoma with coexisting metaplasia, whole exome sequencing results, and the first literature review.Case presentation: Hereby we present the case of a 58-year-old man, whose polypectomy specimen revealed a lesion composed of mainly foveolar cells with low-grade dysplasia, and was concluded as foveolar adenoma. Due to the incomplete resection, polypectomy was repeated, this time foveolar adenoma was diagnosed with high-grade dysplasia. Foveolar differentiation was proved with MUC5AC immunohistochemistry, in addition, KRAS and SMAD4 pathogenic mutations were identified.Discussion: Duodenal foveolar adenoma remains a controversial and an enigmatic entity. Our paper presents such a lesion with first low-grade, then high-grade dysplasia, and KRAS mutation, identical to gastric manifestations. The further sample of our patient suggests foveolar metaplasia as an aetiological factor that supports the literature data. |
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| ISSN: | 1015-2008 |