Gonzalez Raul S, Adsay Volkan, Graham Rondell P, Shroff Stuti G, Feely Michael M, Drage Michael G, Lewin David N, Swanson Eric A, Yantiss Rhonda K, Bağci Pelin, Krasinskas Alyssa M
Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, NY, USA.
Department of Pathology and Laboratory Medicine, Emory University, Atlanta, GA, USA.
Histopathology. 2017 May;70(6):918-928. doi: 10.1111/his.13149. Epub 2017 Feb 16.
Massive gastric polyposis is a rare entity that is often associated with juvenile polyposis syndrome (JPS). The aim of this study was to evaluate the clinicopathological features of 22 patients with abundant gastric juvenile-type or hyperplastic-like polyps.
The study included 12 males and 10 females with a median age of 48 years (range: 13-79 years). Fourteen (64%) patients carried a diagnosis of JPS, and three had prior gastrointestinal adenocarcinomas. Patients without known JPS presented at an older median age (60 years versus 40 years; P = 0.0068). Clinical symptoms included nausea, vomiting, and abdominal pain; 23% of patients were asymptomatic. Eighteen cases showed complete or near-complete carpeting of the gastric mucosa by innumerable polyps, ranging from a few millimetres to ~100 mm. Most polyps formed long, bulbous projections and had characteristic histological features, including a smooth outer contour, prominent stromal oedema, and widely spaced, often cystically dilated glands lined by foveolar epithelium; some polyps had less stroma and more hyperplastic foveolar epithelium. All had normal underlying or adjacent mucosa. Four (18%) cases harboured adenocarcinoma, and seven (32%) others showed dysplasia. SMAD4 immunohistochemical staining showed patchy loss in polyps from 19 of 20 cases tested. Five of six (84%) patients tested had a germline SMAD4 mutation.
Massive gastric juvenile-type polyposis can occur in patients with and without known JPS, and may mimic different conditions, such as other polyposis syndromes and Ménétrier disease. Pathologists play an important role in disease classification, as some patients lack a family or personal history of JPS, have few if any colonic polyps, and may not harbour diagnostic germline mutations.
巨大胃息肉病是一种罕见疾病，常与幼年性息肉病综合征（JPS）相关。本研究旨在评估22例患有大量胃幼年型或增生样息肉患者的临床病理特征。
该研究纳入12例男性和10例女性，中位年龄48岁（范围：13 - 79岁）。14例（64%）患者被诊断为JPS，3例曾患胃肠道腺癌。无已知JPS的患者中位年龄较大（60岁对40岁；P = 0.0068）。临床症状包括恶心、呕吐和腹痛；23%的患者无症状。18例病例显示胃黏膜被无数息肉完全或几乎完全覆盖，息肉大小从几毫米到约100毫米不等。大多数息肉形成长的、球状突起，具有特征性组织学特征，包括光滑的外轮廓、显著的间质水肿以及由小凹上皮衬里的间隔较宽且常呈囊性扩张的腺体；一些息肉间质较少，小凹上皮增生更明显。所有患者的基础或相邻黏膜均正常。4例（18%）病例伴有腺癌，另外7例（32%）显示发育异常。SMAD4免疫组化染色显示，在检测的20例病例中的19例息肉中有散在缺失。检测的6例患者中有5例（84%）存在种系SMAD4突变。
巨大胃幼年型息肉病可发生于有或无已知JPS的患者中，可能类似不同疾病，如其他息肉病综合征和门脉高压性胃病。病理学家在疾病分类中起重要作用，因为一些患者缺乏JPS家族史或个人史，结肠息肉很少或没有，且可能没有诊断性种系突变。
