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...

Teljes leírás

Elmentve itt :
Bibliográfiai részletek
Szerzők: Ferenczi Ádám
Germano Sofia
Afonso Joana
Kuthi Levente
Lantos Tamás
Sejben Anita
Dokumentumtípus: Cikk
Megjelent: 2025
Sorozat:PATHOBIOLOGY 92
Tárgyszavak:
doi:10.1159/000546139

mtmt:36169705
Online Access:http://publicatio.bibl.u-szeged.hu/37419
LEADER 02155nab a2200289 i 4500
001 publ37419
005 20251003144105.0
008 250808s2025 hu o 000 eng d
022 |a 1015-2008 
024 7 |a 10.1159/000546139  |2 doi 
024 7 |a 36169705  |2 mtmt 
040 |a SZTE Publicatio Repozitórium  |b hun 
041 |a eng 
100 1 |a Ferenczi Ádám 
245 1 0 |a Duodenal Foveolar Adenoma  |h [elektronikus dokumentum] :  |b Case Presentation with Whole Exome Sequencing and Review of the Literature : [case report] /  |c  Ferenczi Ádám 
260 |c 2025 
300 |a 300-305 
490 0 |a PATHOBIOLOGY  |v 92 
520 3 |a 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. 
650 4 |a Általános orvostudomány 
700 0 1 |a Germano Sofia  |e aut 
700 0 1 |a Afonso Joana  |e aut 
700 0 1 |a Kuthi Levente  |e aut 
700 0 1 |a Lantos Tamás  |e aut 
700 0 1 |a Sejben Anita  |e aut 
856 4 0 |u http://publicatio.bibl.u-szeged.hu/37419/7/36169705.pdf  |z Dokumentum-elérés  
856 4 0 |u http://publicatio.bibl.u-szeged.hu/37419/1/43_Foveolaradenoma_Pathobiology.pdf  |z Dokumentum-elérés