Gastric adenocarcinoma and proximal polyposis of the stomach（GAPPS）の1例
2012年に提唱されたgastric adenocarcinoma and proximal polyposis of the stomach（GAPPS）は，家族性に胃底腺ポリポーシスを生じ，胃底腺を発生母地として胃癌を発症する．今回，GAPPSと診断した1 例を経験したので報告する．44歳女性．母親は30代に胃ポリポーシスを指摘されたが自然消失した．73歳で胃癌を発症した後，多発する胃底腺ポリープが出現した．家族歴を考慮し上部消化管内視鏡検査を施行すると，密生する胃底腺ポリポーシスと，ポリープとは異なる白色調隆起を認め，組織学的に腺癌と診断された．遺伝学的検査ではAPC遺伝子のプロモーター...
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| Published in | 遺伝性腫瘍 Vol. 23; no. 3; pp. 109 - 113 |
|---|---|
| Main Authors | , , |
| Format | Journal Article |
| Language | Japanese |
| Published |
一般社団法人 日本遺伝性腫瘍学会
15.12.2023
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| Subjects | |
| Online Access | Get full text |
| ISSN | 2435-6808 |
| DOI | 10.18976/jsht.23.3_109 |
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| Abstract | 2012年に提唱されたgastric adenocarcinoma and proximal polyposis of the stomach（GAPPS）は，家族性に胃底腺ポリポーシスを生じ，胃底腺を発生母地として胃癌を発症する．今回，GAPPSと診断した1 例を経験したので報告する．44歳女性．母親は30代に胃ポリポーシスを指摘されたが自然消失した．73歳で胃癌を発症した後，多発する胃底腺ポリープが出現した．家族歴を考慮し上部消化管内視鏡検査を施行すると，密生する胃底腺ポリポーシスと，ポリープとは異なる白色調隆起を認め，組織学的に腺癌と診断された．遺伝学的検査ではAPC遺伝子のプロモーター1B領域に病的バリアントを確認し，GAPPSと診断した．GAPPSの本邦からの報告は少なく予防的胃全摘術やサーベイランスの明確な基準はないため，今後も慎重な経過観察と継続した遺伝カウンセリングが必要である． |
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| AbstractList | 2012年に提唱されたgastric adenocarcinoma and proximal polyposis of the stomach（GAPPS）は，家族性に胃底腺ポリポーシスを生じ，胃底腺を発生母地として胃癌を発症する．今回，GAPPSと診断した1 例を経験したので報告する．44歳女性．母親は30代に胃ポリポーシスを指摘されたが自然消失した．73歳で胃癌を発症した後，多発する胃底腺ポリープが出現した．家族歴を考慮し上部消化管内視鏡検査を施行すると，密生する胃底腺ポリポーシスと，ポリープとは異なる白色調隆起を認め，組織学的に腺癌と診断された．遺伝学的検査ではAPC遺伝子のプロモーター1B領域に病的バリアントを確認し，GAPPSと診断した．GAPPSの本邦からの報告は少なく予防的胃全摘術やサーベイランスの明確な基準はないため，今後も慎重な経過観察と継続した遺伝カウンセリングが必要である． |
| Author | 稲垣, 夏子 河野, 真 山本, 阿紀子 |
| Author_xml | – sequence: 1 fullname: 稲垣, 夏子 organization: 東京医科大学病院 遺伝子診療センター – sequence: 1 fullname: 河野, 真 organization: 東京医科大学 消化器内科 – sequence: 1 fullname: 山本, 阿紀子 organization: 東京医科大学 産科婦人科学分野 |
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| References | 16) Garrean S, Hering J, Saied A, et al.: Gastric adenocarcinoma arising from fundic gland polyps in a patient with familial adenomatous polyposis syndrome. Am Surg 2008; 74: 79-83. 12) Li J, Woods SL, Healey S, et al.: Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant. Am J Hum Genet 2016; 98: 830-842. 17) Yanaru-Fujisawa R, Nakamura S, Moriyama T, et al.: Familial fundic gland polyposis with gastric cancer. Gut 2012; 61: 1103-1104. 11) Rudloff U: Gastric adenocarcinoma and proximal polyposis of the stomach: diagnosis and clinical perspectives. Clin Exp Gastroenterol 2018; 11: 447-459. 6) Fornasarig M, Magris R, De Re V, et al.: Molecular and Pathological Features of Gastric Cancer in Lynch Syndrome and Familial Adenomatous Polyposis. Int J Mol Sci 2018; 19: 1682. 9) 大腸癌研究会編：遺伝性大腸癌診療ガイドライン2020年版．東京：金原出版，2020 4) Bianchi LK, Burke CA, Bennett AE, et al.: Fundic gland polyp dysplasia is common in familial adenomatous polyposis. Clin Gastroenterol Hepatol 2008; 6: 180-185. 14) Mitsui Y, Yokoyama R, Fujimoto S, at al.: First report of an Asian family with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) revealed with the germline mutation of the APC exon 1B promoter region. Gastric Cancer 2018; 21: 1058-1063. 15) Hofgärtner WT, Thorp M, Ramus MW, et al.: Gastric adenocarcinoma associated with fundic gland polyps in a patient with attenuated familial adenomatous polyposis. Am J Gastroenterol 1999; 94: 2275-2281. 13) Repak R, Kohoutova D, Podhola M, Rejchrt S, et al.: The first European family with gastric adenocarcinoma and proximal polyposis of the stomach: case report and review of the literature. Gastrointest Endosc 2016; 84: 718-725. 3) Shimamoto Y, Ishiguro S, Takeuchi Y, et al.: Gastric neoplasms in patients with familial adenomatous polyposis: endoscopic and clinicopathologic features. Gastrointest Endosc 2021; 94: 1030-1042.e2. 5) Garrean S, Hering J, Saied A, et al.: Gastric adenocarcinoma arising from fundic gland polyps in a patient with familial adenomatous polyposis syndrome. Am Surg 2008; 74: 79-83. 1) Genta RM, Schuler CM, Robiou CI, et al.: No association between gastric fundic gland polyps and gastrointestinal neoplasia in a study of over 100,000 patients. Clin Gastroenterol Hepatol 2009; 7: 849-854. 7) Yamaguchi T, Ishida H, Ueno H, et al.: Upper gastrointestinal tumours in Japanese familial adenomatous polyposis patients. Jpn J Clin Oncol 2016; 46: 310-315. 8) Offerhaus GJ, Giardiello FM, Krush AJ, et al.: The risk of upper gastrointestinal cancer in familial adenomatous polyposis. Gastroenterology 1992; 102: 1980-1982. 18) Yen T, Stanich PP, Axell L, et al.: APC-Associated Polyposis Conditions. GeneReviews® [Internet] [cited 2023/8/21]. Seattle: University of Washington, 1998 [updated 2022 May 12]: 1993–2023. 19) Li J, Woods SL, Healey S, et al.: Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant. Am J Hum Genet 2016; 98: 830-842. 10) Worthley DL, Phillips KD, Wayte N, et al.: Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a new autosomal dominant syndrome. Gut 2012; 61: 774-779. 20) Salami AC, Stone JM, Greenberg RH, et al.: Early Prophylactic Gastrectomy for the Management of Gastric Adenomatous Proximal Polyposis Syndrome (GAPPS). ACS Case Rev Surg 2022; 3: 62-68. 2) 三井康裕，寺前智史，田中久美子，他：Gastric adenocarcinoma and proximal polyposis of the stomach（GAPPS）におけるAPC遺伝子生殖細胞系列バリアントおよび臨床病理学的特徴．家族性腫瘍 2019；19：53-59 |
| References_xml | – reference: 5) Garrean S, Hering J, Saied A, et al.: Gastric adenocarcinoma arising from fundic gland polyps in a patient with familial adenomatous polyposis syndrome. Am Surg 2008; 74: 79-83. – reference: 20) Salami AC, Stone JM, Greenberg RH, et al.: Early Prophylactic Gastrectomy for the Management of Gastric Adenomatous Proximal Polyposis Syndrome (GAPPS). ACS Case Rev Surg 2022; 3: 62-68. – reference: 2) 三井康裕，寺前智史，田中久美子，他：Gastric adenocarcinoma and proximal polyposis of the stomach（GAPPS）におけるAPC遺伝子生殖細胞系列バリアントおよび臨床病理学的特徴．家族性腫瘍 2019；19：53-59． – reference: 15) Hofgärtner WT, Thorp M, Ramus MW, et al.: Gastric adenocarcinoma associated with fundic gland polyps in a patient with attenuated familial adenomatous polyposis. Am J Gastroenterol 1999; 94: 2275-2281. – reference: 17) Yanaru-Fujisawa R, Nakamura S, Moriyama T, et al.: Familial fundic gland polyposis with gastric cancer. Gut 2012; 61: 1103-1104. – reference: 8) Offerhaus GJ, Giardiello FM, Krush AJ, et al.: The risk of upper gastrointestinal cancer in familial adenomatous polyposis. Gastroenterology 1992; 102: 1980-1982. – reference: 7) Yamaguchi T, Ishida H, Ueno H, et al.: Upper gastrointestinal tumours in Japanese familial adenomatous polyposis patients. Jpn J Clin Oncol 2016; 46: 310-315. – reference: 11) Rudloff U: Gastric adenocarcinoma and proximal polyposis of the stomach: diagnosis and clinical perspectives. Clin Exp Gastroenterol 2018; 11: 447-459. – reference: 9) 大腸癌研究会編：遺伝性大腸癌診療ガイドライン2020年版．東京：金原出版，2020． – reference: 16) Garrean S, Hering J, Saied A, et al.: Gastric adenocarcinoma arising from fundic gland polyps in a patient with familial adenomatous polyposis syndrome. Am Surg 2008; 74: 79-83. – reference: 6) Fornasarig M, Magris R, De Re V, et al.: Molecular and Pathological Features of Gastric Cancer in Lynch Syndrome and Familial Adenomatous Polyposis. Int J Mol Sci 2018; 19: 1682. – reference: 18) Yen T, Stanich PP, Axell L, et al.: APC-Associated Polyposis Conditions. GeneReviews® [Internet] [cited 2023/8/21]. Seattle: University of Washington, 1998 [updated 2022 May 12]: 1993–2023. – reference: 3) Shimamoto Y, Ishiguro S, Takeuchi Y, et al.: Gastric neoplasms in patients with familial adenomatous polyposis: endoscopic and clinicopathologic features. Gastrointest Endosc 2021; 94: 1030-1042.e2. – reference: 12) Li J, Woods SL, Healey S, et al.: Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant. Am J Hum Genet 2016; 98: 830-842. – reference: 13) Repak R, Kohoutova D, Podhola M, Rejchrt S, et al.: The first European family with gastric adenocarcinoma and proximal polyposis of the stomach: case report and review of the literature. Gastrointest Endosc 2016; 84: 718-725. – reference: 4) Bianchi LK, Burke CA, Bennett AE, et al.: Fundic gland polyp dysplasia is common in familial adenomatous polyposis. Clin Gastroenterol Hepatol 2008; 6: 180-185. – reference: 10) Worthley DL, Phillips KD, Wayte N, et al.: Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a new autosomal dominant syndrome. Gut 2012; 61: 774-779. – reference: 1) Genta RM, Schuler CM, Robiou CI, et al.: No association between gastric fundic gland polyps and gastrointestinal neoplasia in a study of over 100,000 patients. Clin Gastroenterol Hepatol 2009; 7: 849-854. – reference: 19) Li J, Woods SL, Healey S, et al.: Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant. Am J Hum Genet 2016; 98: 830-842. – reference: 14) Mitsui Y, Yokoyama R, Fujimoto S, at al.: First report of an Asian family with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) revealed with the germline mutation of the APC exon 1B promoter region. Gastric Cancer 2018; 21: 1058-1063. |
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| Snippet | 2012年に提唱されたgastric adenocarcinoma and proximal polyposis of the stomach（GAPPS）は，家族性に胃底腺ポリポーシスを生じ，胃底腺を発生母地として胃癌を発... |
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| Title | Gastric adenocarcinoma and proximal polyposis of the stomach（GAPPS）の1例 |
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