Foretová Lenka, Navrátilová Marie, Svoboda Marek, Grell Petr, Nemec Libor, Sirotek Lukáš, Obermannová Radka, Novotný Ivo, Sachlova Milana, Fabian Pavel, Kroupa Radek, Vasickova Petra, Házová Jana, Sťahlová Eva Hrabincová, Machackova Eva
Klin Onkol. 2019 Summer;32(Supplementum2):109-117. doi: 10.14735/amko2019S109.
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare variant of familial adenomatous polyposis. It is an autosomal-dominant cancer-predisposition syndrome with massive polyposis of the stomach and a significant risk of gastric adenocarcinoma. Li et al., 2016, described point mutations in the Ying Yang 1 binding site of the APC gene 1B promoter associated with GAPPS syndrome. The first GAPPS syndrome in a Czech family was described in 2016. At Masaryk Memorial Cancer Institute, GAPPS syndrome was diagnosed in eight families using Sanger sequencing. In all families, one mutation in promoter 1B of APC gene NM_001127511: c.-191T>C was detected. This mutation was not found in any patient with multiple colon polyposis without a detected classic mutation in the APC gene. In total, 24 carriers of this mutation in promoter 1B of the APC gene were detected. Out of those 24 carriers, 20 had massive gastric polyposis with more than 100 fundic glandular polyps diagnosed between the age of 22 and 65, 5 had already died of adenocarcinoma of the stomach (at the ages of 29, 40, 59, 60 and 64, respectively) and another woman was treated at the age of 29. Two female carriers do not yet have polyposis of the stomach at the ages of 31 and 65, respectively; one female carrier has incipient polyposis at the age of 58. A male carrier does not have any clinical symptoms, gastroscopy was not indicated because of his age. Prophylactic total gastrectomy with D2 lymphadenectomy has already been performed 6 times at Masaryk Memorial Cancer Institute, in 5 cases without adenocarcinoma at the ages of 27, 34, 44, 51 and 66, respectively; in one female carrier adenocarcinoma of the stomach was detected in a histology specimen. Two prophylactic gastrectomies with D1 lymphadenectomy were performed at University Hospital Brno at the ages of 42 and 50, respectively. In the Czech Republic point mutation c.-191T>C (rs879253783) in the 1B promoter of the APC gene is a frequent cause of gastric polyposis with a high risk of gastric adenocarcinoma, even at a young age. Positively tested individuals are recommended to high-risk oncology clinic. A necessary part of the discussion with the patient is information about a preventive gastrectomy.
胃腺癌和胃近端息肉病（GAPPS）是家族性腺瘤性息肉病的一种罕见变体。它是一种常染色体显性癌症易感性综合征，伴有胃部大量息肉形成以及患胃腺癌的显著风险。Li等人在2016年描述了与GAPPS综合征相关的APC基因1B启动子的阴阳1结合位点的点突变。2016年报道了捷克一个家族中的首例GAPPS综合征。在马萨里克纪念癌症研究所，通过桑格测序在8个家族中诊断出GAPPS综合征。在所有家族中，均检测到APC基因NM_001127511的1B启动子中的一个突变：c.-191T>C。在任何未检测到APC基因经典突变的多发性结肠息肉患者中均未发现该突变。总共检测到24名APC基因1B启动子中该突变的携带者。在这24名携带者中，20人有大量胃息肉，在22岁至65岁之间被诊断出有100多个胃底腺息肉，5人已死于胃癌（分别为29岁、40岁、59岁、60岁和64岁），另一名女性在29岁时接受了治疗。两名女性携带者分别在31岁和65岁时尚未出现胃息肉；一名女性携带者在58岁时出现初期息肉。一名男性携带者没有任何临床症状，由于其年龄原因未进行胃镜检查。马萨里克纪念癌症研究所已经进行了6次预防性全胃切除术及D2淋巴结清扫术，其中5例在27岁、34岁、44岁、51岁和66岁时未发现腺癌；在一名女性携带者的组织学标本中检测到胃癌。布尔诺大学医院分别在42岁和50岁时进行了两次预防性胃切除术及D1淋巴结清扫术。在捷克共和国，APC基因1B启动子中的点突变c.-191T>C（rs879253783）是胃息肉形成的常见原因，即使在年轻时患胃腺癌的风险也很高。建议检测呈阳性的个体前往高危肿瘤诊所。与患者讨论的一个必要部分是关于预防性胃切除术的信息。
