Ferenczi Ádám, Germano Sofia, Afonso Joana, Kuthi Levente, Lantos Tamás, Sejben Anita
Department of Pathology, Albert Szent-Györgyi Medical School, University of Szeged, Szeged, Hungary.
NOVA Medical School, NOVA University Lisbon, Lisbon, Portugal.
Pathobiology. 2025 May 28:1-6. doi: 10.1159/000546139.
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.
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.
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.
十二指肠腺瘤最常与息肉病综合征相关。小凹腺瘤是一种病因不明的极为罕见的实体。我们报告一例伴有化生的十二指肠小凹腺瘤病例，展示全外显子测序结果，并进行首次文献综述。
在此，我们报告一例58岁男性病例，其息肉切除标本显示一个主要由伴有低级别异型增生的小凹细胞组成的病变，诊断为小凹腺瘤。由于切除不完全，再次进行息肉切除术；此次，小凹腺瘤被诊断为高级别异型增生。通过MUC5AC免疫组化证实了小凹分化；此外，还鉴定出KRAS和SMAD4致病突变。
十二指肠小凹腺瘤仍然是一个有争议且神秘的实体。我们的论文展示了这样一个病变，先是低级别异型增生，然后是高级别异型增生以及KRAS突变，与胃部表现相同。我们患者的进一步样本提示小凹化生是一种支持文献数据的病因学因素。
