Clinicopathological characteristics and pathogenic germline variants of gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS)
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal dominant inherited disease clinically characterized by gastric cancer and fundic gland polyposis (FGPsis). Germline variants of the APC promotor 1B have been reported as pathogenic variants in GAPPS families. Most G...
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| Published in | JOURNAL OF FAMILIAL TUMORS Vol. 19; no. 2; pp. 53 - 59 |
|---|---|
| Main Authors | , , , , , , , , , |
| Format | Journal Article |
| Language | Japanese |
| Published |
The Japanese Society for Hereditary Tumors
2019
一般社団法人日本遺伝性腫瘍学会 |
| Subjects | |
| Online Access | Get full text |
| ISSN | 1346-1052 2189-6674 |
| DOI | 10.18976/jsft.19.2_53 |
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| Abstract | Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal dominant inherited disease clinically characterized by gastric cancer and fundic gland polyposis (FGPsis). Germline variants of the APC promotor 1B have been reported as pathogenic variants in GAPPS families. Most GAPPS families have been reported in Western countries; however, only a few GAPPS families have been reported from Japan. Appropriate surveillance including gastrointestinal endoscopy and indication of surgical gastrectomy for GAPPS patients have not been established because of the lack of knowledge of GAPPS and the high positivity rate for Helicobacter pylori infection in Japan. A large-scale investigation of clinicopathological characteristics and pathology is required to establish of a surveillance and treatment strategy for GAPPS. |
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| AbstractList | Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal dominant inherited disease clinically characterized by gastric cancer and fundic gland polyposis (FGPsis). Germline variants of the APC promotor 1B have been reported as pathogenic variants in GAPPS families. Most GAPPS families have been reported in Western countries; however, only a few GAPPS families have been reported from Japan. Appropriate surveillance including gastrointestinal endoscopy and indication of surgical gastrectomy for GAPPS patients have not been established because of the lack of knowledge of GAPPS and the high positivity rate for Helicobacter pylori infection in Japan. A large-scale investigation of clinicopathological characteristics and pathology is required to establish of a surveillance and treatment strategy for GAPPS.
GAPPSは胃底腺ポリポーシスを背景とした胃癌を発生する新規の常染色体優性遺伝性疾患である．その原因としてAdenomatous polyposis coli（APC）遺伝子promotor 1Bの病的バリアントが報告されている．GAPPSの報告は欧米の家系のみであったが，近年になって本邦からも少数例認められるようになった．しかし，Helicobacter pylori感染率が高い本邦においては疾患の拾い上げが十分でない可能性がある．また，GAPPSの自然史は未だ不明な点が多く，臨床的に高い悪性度を示すものの，予防的胃全摘術の適応を含むサーベイランス方法は十分に定まっていない．今後，本邦をはじめ，より大規模な調査によりGAPPSの臨床病理学的特徴，病態およびサーベイランスのあり方について十分に検討する必要がある． Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal dominant inherited disease clinically characterized by gastric cancer and fundic gland polyposis (FGPsis). Germline variants of the APC promotor 1B have been reported as pathogenic variants in GAPPS families. Most GAPPS families have been reported in Western countries; however, only a few GAPPS families have been reported from Japan. Appropriate surveillance including gastrointestinal endoscopy and indication of surgical gastrectomy for GAPPS patients have not been established because of the lack of knowledge of GAPPS and the high positivity rate for Helicobacter pylori infection in Japan. A large-scale investigation of clinicopathological characteristics and pathology is required to establish of a surveillance and treatment strategy for GAPPS. |
| Author | Teramae, Satoshi Muguruma, Naoki Mitsui, Yasuhiro Miyamoto, Hiroshi Sato, Yasushi Tanaka, Kumiko Okamoto, Koichi Takayama, Tetsuji Kitamura, Shinji Fujimoto, Shota |
| Author_FL | 宮本 弘志 寺前 智史 田中 久美子 北村 晋志 岡本 耕一 佐藤 康史 高山 哲治 藤本 将太 三井 康裕 六車 直樹 |
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| References | 24）Hunt RH, Xiao SD, Megraud F, et al.: Helicobacter pylori in developing countries. World Gastroenterology Organization Global Guideline. J Gastrointestin Liver Dis. 2011; 20: 299–304. 12）矢野充保，大塚加奈子，青木秀俊ら：Gastric adenocarcinoma and proximal polyposis of the stomachの1例．Gastroenterological Endoscopy. 2018; 60: 1572–1578. 23）Clevers H. Wnt/beta-catenin signaling in development and disease. Cell. 2006; 127: 469–480. 13）Yanaru-Fujisawa R, Nakamura S, Moriyama T, et al.: Familial fundic gland polyposis with gastric cancer. Gut. 2012; 61: 1103–1104. 16）Abraham SC, Park SJ, Mugartegui L, et al. Sporadic fundic gland polyps with epithelial dysplasia: evidence for preferential targeting for mutations in the adenomatous polyposis coli gene. Am J Pathol. 2002; 161: 1735–1742. 3）Kuipers EJ: Proton pump inhibitors and gastric neoplasia. Gut. 2006; 55: 1217–1221. 1）Abraham SC, Nobukawa B, Giardiello FM, et al.: Fundic gland polyps in familial adenomatous polyposis: neoplasm with frequent somatic adenomatous polyposis coli gene alterations. Am J Pathol. 2000; 157: 747–754. 4）Toyooka M, Konishi M, Kikuchi-Yanoshita R, et al.: Somatic mutations of the adenomatous polyposis coli gene in gastroduodenal tumors from patients with familial adenomatous polyposis. Cancer Res. 1995; 55: 3165–3170. 25）Huang JQ, Sridhar S, Chen Y, et al.: Meta-analysis of the relationship between Helicobacter pylori seropositivity and gastric cancer. Gastroenterology. 1998; 114: 1169–1179. 7）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. 14）Abraham SC, Nobukawa B, Giardiello FM, et al.: Sporadic fundic gland polyps: common gastric polyps arising through activating mutations in the beta-catenin gene. Am J Pathol. 2001; 158: 1005–1010. 20）Watanabe H, Enjoji M, Yao T, et al. Gastric lesions in familial adenomatosis coli: their incidence and histologic analysis. Hum Pathol. 1978; 9: 269–283. 9）Repak R, Kohoutova D, Podhola M, 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. 21）de Boer WB, Ee H, Kumarasinghe MP.: Neoplastic lesions of gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) are gastric phenotype. Am J Surg Pathol. 2018; 42: 1–8 27）Nakamura S, Matsumoto T, Kobori Y, et al.: Impact of Helicobacter pylori infection and mucosal atrophy on gastric lesions in patients with familial adenomatous polyposis. Gut. 2002; 51: 485–489. 22）Groden J, Thliveris A, Samowitz W, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell. 1991; 66: 589–600. 18）Offerhaus GJ, Giardiello FM, Krush AJ, et al. The risk of upper gastrointestinal cancer in familial adenomatous polyposis. Gastroenterology. 1992; 102: 1980–1982. 19）Itoh H, Ikeda S, Oohata Y, Iida M, et al. Treatment of desmoid tumors in Gardner’s syndrome. Report of a case. Dis Colon Rectum. 1988; 31: 459–461. 28）Rudloff U. Gastric adenocarcinoma and proximal polyposis of the stomach: diagnosis and clinical perspectives. Clin Exp Gastroenterol. 2018; 11: 447–459. 6）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. 11）Mitsui Y, Yokoyama R, Fujimoto S, et al.: First report of an Asian family with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) revealed with the germline germline mutation of the APC exon 1B promotor region. Gastric Cancer. 2018; 21: 1058–1063. 17）Walton SJ, Frayling IM, Clark SK, et al. Gastric tumours in FAP. Fam Cancer. 2017; 16: 363–369. 10）Beer A, Streubel B, Asari R, et al.: Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) -a rare recently described gastric polyposis syndrome- report of a case. Z Gastroenterol. 2017; 55: 1131–1134. 15）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. 2）Wu TT, Kornacki S, Rashid A, et al.: Dysplasia and dysregulation of proliferation in foveolar and surface epithelia of fundic gland polyps from patients with familial adenomatous polyposis. Am J Surg Pathol. 1998; 22: 293–298. 8）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. 5）Arnason T, Liang WY, Alfaro E, et al.: Morphology and natural history of familial adenomatous polyposis-associated dysplastic fundic gland polyps. Histopathology. 2014; 65: 353–362. 26）Uemura N, Okamoto S, Yamamoto S, et al.: Helicobacter pylori infection and the development of gastric cancer. N Engl J Med. 2001; 345: 784–789. |
| References_xml | – reference: 10）Beer A, Streubel B, Asari R, et al.: Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) -a rare recently described gastric polyposis syndrome- report of a case. Z Gastroenterol. 2017; 55: 1131–1134. – reference: 7）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: 28）Rudloff U. Gastric adenocarcinoma and proximal polyposis of the stomach: diagnosis and clinical perspectives. Clin Exp Gastroenterol. 2018; 11: 447–459. – reference: 15）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: 18）Offerhaus GJ, Giardiello FM, Krush AJ, et al. The risk of upper gastrointestinal cancer in familial adenomatous polyposis. Gastroenterology. 1992; 102: 1980–1982. – reference: 27）Nakamura S, Matsumoto T, Kobori Y, et al.: Impact of Helicobacter pylori infection and mucosal atrophy on gastric lesions in patients with familial adenomatous polyposis. Gut. 2002; 51: 485–489. – reference: 3）Kuipers EJ: Proton pump inhibitors and gastric neoplasia. Gut. 2006; 55: 1217–1221. – reference: 24）Hunt RH, Xiao SD, Megraud F, et al.: Helicobacter pylori in developing countries. World Gastroenterology Organization Global Guideline. J Gastrointestin Liver Dis. 2011; 20: 299–304. – reference: 2）Wu TT, Kornacki S, Rashid A, et al.: Dysplasia and dysregulation of proliferation in foveolar and surface epithelia of fundic gland polyps from patients with familial adenomatous polyposis. Am J Surg Pathol. 1998; 22: 293–298. – reference: 12）矢野充保，大塚加奈子，青木秀俊ら：Gastric adenocarcinoma and proximal polyposis of the stomachの1例．Gastroenterological Endoscopy. 2018; 60: 1572–1578. – reference: 13）Yanaru-Fujisawa R, Nakamura S, Moriyama T, et al.: Familial fundic gland polyposis with gastric cancer. Gut. 2012; 61: 1103–1104. – reference: 6）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: 25）Huang JQ, Sridhar S, Chen Y, et al.: Meta-analysis of the relationship between Helicobacter pylori seropositivity and gastric cancer. Gastroenterology. 1998; 114: 1169–1179. – reference: 14）Abraham SC, Nobukawa B, Giardiello FM, et al.: Sporadic fundic gland polyps: common gastric polyps arising through activating mutations in the beta-catenin gene. Am J Pathol. 2001; 158: 1005–1010. – reference: 21）de Boer WB, Ee H, Kumarasinghe MP.: Neoplastic lesions of gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) are gastric phenotype. Am J Surg Pathol. 2018; 42: 1–8 – reference: 23）Clevers H. Wnt/beta-catenin signaling in development and disease. Cell. 2006; 127: 469–480. – reference: 8）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: 17）Walton SJ, Frayling IM, Clark SK, et al. Gastric tumours in FAP. Fam Cancer. 2017; 16: 363–369. – reference: 9）Repak R, Kohoutova D, Podhola M, 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: 5）Arnason T, Liang WY, Alfaro E, et al.: Morphology and natural history of familial adenomatous polyposis-associated dysplastic fundic gland polyps. Histopathology. 2014; 65: 353–362. – reference: 11）Mitsui Y, Yokoyama R, Fujimoto S, et al.: First report of an Asian family with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) revealed with the germline germline mutation of the APC exon 1B promotor region. Gastric Cancer. 2018; 21: 1058–1063. – reference: 19）Itoh H, Ikeda S, Oohata Y, Iida M, et al. Treatment of desmoid tumors in Gardner’s syndrome. Report of a case. Dis Colon Rectum. 1988; 31: 459–461. – reference: 26）Uemura N, Okamoto S, Yamamoto S, et al.: Helicobacter pylori infection and the development of gastric cancer. N Engl J Med. 2001; 345: 784–789. – reference: 20）Watanabe H, Enjoji M, Yao T, et al. Gastric lesions in familial adenomatosis coli: their incidence and histologic analysis. Hum Pathol. 1978; 9: 269–283. – reference: 1）Abraham SC, Nobukawa B, Giardiello FM, et al.: Fundic gland polyps in familial adenomatous polyposis: neoplasm with frequent somatic adenomatous polyposis coli gene alterations. Am J Pathol. 2000; 157: 747–754. – reference: 4）Toyooka M, Konishi M, Kikuchi-Yanoshita R, et al.: Somatic mutations of the adenomatous polyposis coli gene in gastroduodenal tumors from patients with familial adenomatous polyposis. Cancer Res. 1995; 55: 3165–3170. – reference: 16）Abraham SC, Park SJ, Mugartegui L, et al. Sporadic fundic gland polyps with epithelial dysplasia: evidence for preferential targeting for mutations in the adenomatous polyposis coli gene. Am J Pathol. 2002; 161: 1735–1742. – reference: 22）Groden J, Thliveris A, Samowitz W, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell. 1991; 66: 589–600. |
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| Title | Clinicopathological characteristics and pathogenic germline variants of gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) |
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