Department of Pathology and ARUP Laboratories, University of Utah, Salt Lake City, Utah, USA.
Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA.
Am J Gastroenterol. 2017 Jul;112(7):1094-1102. doi: 10.1038/ajg.2017.125. Epub 2017 May 2.
Fundic gland polyps (FGPs) can rarely exhibit dysplasia of the surface epithelium. Based on retrospective data, FGPs with dysplasia (FGPDs) are thought to be a strong marker for familial adenomatous polyposis (FAP), although sporadic, non-syndromic FGPDs also occur. Owing to the significant syndromic association, diagnosis of an apparently sporadic FGPD may prompt clinical evaluation for FAP, especially its attenuated variant. We sought to evaluate the positive predictive value of incidental FGPDs for FAP. We also characterized the clinicopathologic features of incidental FGPDs to advance clinical management.
Incidental FGPDs were identified from 2004 to 2015 in patients without FAP at biopsy. All clinical follow-up data were reviewed, and germline analysis for APC and MUTYH mutations was performed in consenting patients.
We identified 25 incidental FGPDs in patients not known to have FAP (11.6% of FGPDs, 1.0% of all FGPs). Four patients had a family history of gastric polyps or gastrointestinal cancers. Clinical management included completion polypectomy and gastric endoscopic surveillance (44%), endoscopic surveillance alone (32%), no follow-up (24%), colonoscopy referral (12%), and genetic counseling (4%). Colonoscopies on record revealed 0-7 cumulative adenomas. Follow-up averaged 4.4 years (range 0.3-10.6). No clinical evidence of FAP, gastric cancer, death, or surgery occurred. None of the 11 patients consenting to germline APC and MUTYH testing had genomic alterations.
Incidental FGPDs in this series were all found to be sporadic (25/25) by endoscopic, clinical, and molecular findings, and thus FGPDs were not harbingers of FAP. As isolated findings, FGPDs do not appear to warrant follow-up genetic counseling or testing.
胃底腺息肉(FGPs)很少表现出表面上皮的异型增生。基于回顾性数据,存在异型增生的 FGPs(FGPDs)被认为是家族性腺瘤性息肉病(FAP)的一个强烈标志物,尽管也存在散发性、非综合征性 FGPDs。由于存在显著的综合征相关性,偶然发现的散发性 FGPD 的诊断可能会促使对 FAP 进行临床评估,尤其是其轻度变异型。我们试图评估偶然发现的 FGPD 对 FAP 的阳性预测值。我们还对偶然发现的 FGPDs 的临床病理特征进行了描述,以推进临床管理。
在活检时无 FAP 的患者中,我们从 2004 年至 2015 年确定了偶然 FGPDs。对所有临床随访数据进行了回顾,并对同意的患者进行 APC 和 MUTYH 基因突变的种系分析。
我们在无 FAP 的患者中发现了 25 例偶然 FGPDs(FGPDs 的 11.6%,FGPs 的 1.0%)。4 名患者有家族性胃息肉或胃肠道癌症病史。临床管理包括完成息肉切除术和胃内镜监测(44%)、仅内镜监测(32%)、无随访(24%)、结肠镜转诊(12%)和遗传咨询(4%)。记录在案的结肠镜检查显示 0-7 个累积腺瘤。随访平均为 4.4 年(范围 0.3-10.6 年)。未发生 FAP、胃癌、死亡或手术的临床证据。同意进行 APC 和 MUTYH 种系检测的 11 名患者中均未发现基因组改变。
在本系列中,所有偶然 FGPDs 通过内镜、临床和分子发现均被确定为散发性(25/25),因此 FGPDs 并非 FAP 的先兆。作为孤立的发现,FGPDs 似乎不需要随访遗传咨询或检测。