Hackeng Wenzel M, Montgomery Elizabeth A, Giardiello Francis M, Singhi Aatur D, Debeljak Marija, Eshleman James R, Vieth Michael, Offerhaus G Johan, Wood Laura D, Brosens Lodewijk A A
Department of Pathology, University Medical Center Utrecht, Utrecht, the Netherlands.
Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Histopathology. 2017 Mar;70(4):549-557. doi: 10.1111/his.13105. Epub 2016 Dec 13.
Gastric pyloric gland adenomas (PGAs) are rare epithelial polyps that are found more commonly in autoimmune atrophic gastritis and familial adenomatous polyposis (FAP). Little is known about the morphology and genetics of PGAs in FAP. PGAs in FAP are studied morphologically and genetically. Findings in FAP-associated PGAs are compared to sporadic PGAs and related lesions such as oxyntic gland adenoma (OGA) to increase our understanding of these rare polyps.
Seven PGAs and 18 fundic gland polyps (FGPs) from FAP patients were collected. KRAS and GNAS mutations were determined in six PGAs and 18 FGPs. Immunohistochemistry was applied on five PGAs to provide further confirmation of the histological subtypes and genetic alterations. Morphology of all PGAs was studied and compared to literature on sporadic PGAs and related lesions. All successfully sequenced PGAs (six of six) carried GNAS mutations and half of the successfully sequenced PGAs carried a KRAS mutation (three of six). Nuclear β-catenin was seen only in one PGA with focal high-grade dysplasia. Morphologically, PGAs in FAP showed overlapping features with OGA.
Familial adenomatous polyposis-associated PGAs have a similar genetic background as sporadic PGAs, i.e. KRAS and GNAS mutation. Based on morphological findings in FAP associated PGAs, it is hypothesized that PGAs and OGAs are closely related lesions.
胃幽门腺腺瘤(PGA)是一种罕见的上皮性息肉,在自身免疫性萎缩性胃炎和家族性腺瘤性息肉病(FAP)中更常见。关于FAP中PGA的形态学和遗传学知之甚少。对FAP中的PGA进行形态学和遗传学研究。将FAP相关PGA的研究结果与散发性PGA及相关病变如胃底腺腺瘤(OGA)进行比较,以增进我们对这些罕见息肉的了解。
收集了7例FAP患者的PGA和18例胃底腺息肉(FGP)。对6例PGA和18例FGP检测KRAS和GNAS突变。对5例PGA进行免疫组化,以进一步证实组织学亚型和基因改变。研究了所有PGA的形态,并与散发性PGA及相关病变的文献进行比较。所有成功测序的PGA(6例中的6例)均携带GNAS突变,一半成功测序的PGA携带KRAS突变(6例中的3例)。仅在1例伴有局灶性高级别异型增生的PGA中可见核β-连环蛋白。形态学上,FAP中的PGA与OGA表现出重叠特征。
家族性腺瘤性息肉病相关的PGA与散发性PGA具有相似的遗传背景,即KRAS和GNAS突变。基于FAP相关PGA的形态学发现,推测PGA和OGA是密切相关的病变。