The role of endoscopy in the management of hereditary diffuse gastric cancer syndrome
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摘要
Hereditary diffuse gastric cancer(HDGC) syndrome is an inherited cancer risk syndrome associated with path-ogenic germline CDH1 variants. Given the high risk for developing diffuse gastric cancer, CDH1 carriers are recommended to undergo prophylactic total gastrectomy for cancer risk reduction. Current guidelines recommend upper endoscopy in CDH1 carriers prior to surgery and then annually for individuals deferring prophylactic total gastrectomy.Management of individuals from HDGC families without CDH1 pathogenic variants remains less clear, and management of families with CDH1 pathogenic variants in the absence of a family history of gastric cancer is particularly problematic at present. Despite adherence to surveillance protocols, endoscopic detection of cancer foci in HDGC is suboptimal and imperfect for facilitating decision-making. Alternative endoscopic modalities, such as chromoendoscopy,endoscopic ultrasound, and other non-white light methods have been utilized,but are of limited utility to further improve cancer detection and risk stratification in HDGC. Herein, we review what is known and what remains unclear about endoscopic surveillance for HDGC, among individuals with and without germline CDH1 pathogenic variants. Ultimately, the use of endoscopy in the management of HDGC remains a challenging arena, but one in which further research to improve surveillance is crucial.
Hereditary diffuse gastric cancer(HDGC) syndrome is an inherited cancer risk syndrome associated with path-ogenic germline CDH1 variants. Given the high risk for developing diffuse gastric cancer, CDH1 carriers are recommended to undergo prophylactic total gastrectomy for cancer risk reduction. Current guidelines recommend upper endoscopy in CDH1 carriers prior to surgery and then annually for individuals deferring prophylactic total gastrectomy.Management of individuals from HDGC families without CDH1 pathogenic variants remains less clear, and management of families with CDH1 pathogenic variants in the absence of a family history of gastric cancer is particularly problematic at present. Despite adherence to surveillance protocols, endoscopic detection of cancer foci in HDGC is suboptimal and imperfect for facilitating decision-making. Alternative endoscopic modalities, such as chromoendoscopy,endoscopic ultrasound, and other non-white light methods have been utilized,but are of limited utility to further improve cancer detection and risk stratification in HDGC. Herein, we review what is known and what remains unclear about endoscopic surveillance for HDGC, among individuals with and without germline CDH1 pathogenic variants. Ultimately, the use of endoscopy in the management of HDGC remains a challenging arena, but one in which further research to improve surveillance is crucial.
Hereditary diffuse gastric cancer(HDGC) syndrome is an inherited cancer risk syndrome associated with path-ogenic germline CDH1 variants. Given the high risk for developing diffuse gastric cancer, CDH1 carriers are recommended to undergo prophylactic total gastrectomy for cancer risk reduction. Current guidelines recommend upper endoscopy in CDH1 carriers prior to surgery and then annually for individuals deferring prophylactic total gastrectomy.Management of individuals from HDGC families without CDH1 pathogenic variants remains less clear, and management of families with CDH1 pathogenic variants in the absence of a family history of gastric cancer is particularly problematic at present. Despite adherence to surveillance protocols, endoscopic detection of cancer foci in HDGC is suboptimal and imperfect for facilitating decision-making. Alternative endoscopic modalities, such as chromoendoscopy,endoscopic ultrasound, and other non-white light methods have been utilized,but are of limited utility to further improve cancer detection and risk stratification in HDGC. Herein, we review what is known and what remains unclear about endoscopic surveillance for HDGC, among individuals with and without germline CDH1 pathogenic variants. Ultimately, the use of endoscopy in the management of HDGC remains a challenging arena, but one in which further research to improve surveillance is crucial.
引文
1 van der Post RS,Vogelaar IP,Carneiro F,Guilford P,Huntsman D,Hoogerbrugge N,Caldas C,Schreiber KE,Hardwick RH,Ausems MG,Bardram L,Benusiglio PR,Bisseling TM,Blair V,Bleiker E,Boussioutas A,Cats A,Coit D,DeGregorio L,Figueiredo J,Ford JM,Heijkoop E,Hermens R,Humar B,Kaurah P,Keller G,Lai J,Ligtenberg MJ,O'Donovan M,Oliveira C,Pinheiro H,Ragunath K,Rasenberg E,Richardson S,Roviello F,Schackert H,Seruca R,Taylor A,Ter Huurne A,Tischkowitz M,Joe ST,van Dijck B,van Grieken NC,van Hillegersberg R,van Sandick JW,Vehof R,van Krieken JH,Fitzgerald RC.Hereditary diffuse gastric cancer:Updated clinical guidelines with an emphasis on germline CDH1mutation carriers.J Med Genet 2015;52:361-374[PMID:25979631 DOI:10.1136/jmedgenet-2015-103094]
2 Pe?ina-Slaus N.Tumor suppressor gene E-cadherin and its role in normal and malignant cells.Cancer Cell Int 2003;3:17[PMID:14613514 DOI:10.1186/1475-2867-3-17]
3 van der Post RS,Carneiro F.Emerging Concepts in Gastric Neoplasia:Heritable Gastric Cancers and Polyposis Disorders.Surg Pathol Clin 2017;10:931-945[PMID:29103540 DOI:10.1016/j.path.2017.07.011]
4 Jones EG.Familial Gastric Cancer.N Z Med J 1964;63:287-296[PMID:14158754]
5 Shaw D,Blair V,Framp A,Harawira P,McLeod M,Guilford P,Parry S,Charlton A,Martin I.Chromoendoscopic surveillance in hereditary diffuse gastric cancer:An alternative to prophylactic gastrectomy?Gut 2005;54:461-468[PMID:15753528 DOI:10.1136/gut.2004.049171]
6 de Almeida Artifon EL,Marinho FRT.Endoscopic screening for hereditary diffuse gastric cancer:One size does not fit all.Gastrointest Endosc 2018;87:405-407[PMID:29406927 DOI:10.1016/j.gie.2017.05.042]
7 Katona BW,Rustgi AK.Gastric Cancer Genomics:Advances and Future Directions.Cell Mol Gastroenterol Hepatol 2017;3:211-217[PMID:28275688 DOI:10.1016/j.jcmgh.2017.01.003]
8 Guilford P,Hopkins J,Harraway J,McLeod M,McLeod N,Harawira P,Taite H,Scoular R,Miller A,Reeve AE.E-cadherin germline mutations in familial gastric cancer.Nature 1998;392:402-405[PMID:9537325 DOI:10.1038/32918]
9 Hansford S,Kaurah P,Li-Chang H,Woo M,Senz J,Pinheiro H,Schrader KA,Schaeffer DF,Shumansky K,Zogopoulos G,Santos TA,Claro I,Carvalho J,Nielsen C,Padilla S,Lum A,Talhouk A,Baker-Lange K,Richardson S,Lewis I,Lindor NM,Pennell E,MacMillan A,Fernandez B,Keller G,Lynch H,Shah SP,Guilford P,Gallinger S,Corso G,Roviello F,Caldas C,Oliveira C,Pharoah PD,Huntsman DG.Hereditary Diffuse Gastric Cancer Syndrome:CDH1 Mutations and Beyond.JAMA Oncol 2015;1:23-32[PMID:26182300 DOI:10.1001/jamaoncol.2014.168]
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12 Sugimoto S,Komatsu H,Morohoshi Y,Kanai T.Recognition of and recent issues in hereditary diffuse gastric cancer.J Gastroenterol 2015;50:831-843[PMID:26049741 DOI:10.1007/s00535-015-1093-9]
13 Weren RDA,van der Post RS,Vogelaar IP,van Krieken JH,Spruijt L,Lubinski J,Jakubowska A,Teodorczyk U,Aalfs CM,van Hest LP,Oliveira C,Kamping EJ,Schackert HK,Ranzani GN,Gómez García EB,Hes FJ,Holinski-Feder E,Genuardi M,Ausems MGEM,Sijmons RH,Wagner A,van der Kolk LE,Cats A,Bj?rnevoll I,Hoogerbrugge N,Ligtenberg MJL.Role of germline aberrations affecting CTNNA1,MAP3K6 and MYD88 in gastric cancer susceptibility.J Med Genet 2018;55:669-674[PMID:29330337 DOI:10.1136/jmedgenet-2017-104962]
14 Gullo I,Devezas V,Baptista M,Garrido L,Castedo S,Morais R,Wen X,Rios E,Pinheiro J,PintoRibeiro I,Ferreira RM,Preto J,Santos-Antunes J,Marques M,Campos M,Almeida F,Espinheira MDC,Amil Dias J,Figueiredo C,Oliveira C,Trindade E,Carneiro F.Phenotypic heterogeneity of hereditary diffuse gastric cancer:Report of a family with early-onset disease.Gastrointest Endosc 2018;87:1566-1575[PMID:29454568 DOI:10.1016/j.gie.2018.02.008]
15 Huntsman DG,Carneiro F,Lewis FR,MacLeod PM,Hayashi A,Monaghan KG,Maung R,Seruca R,Jackson CE,Caldas C.Early gastric cancer in young,asymptomatic carriers of germ-line E-cadherin mutations.N Engl J Med 2001;344:1904-1909[PMID:11419427 DOI:10.1056/NEJM200106213442504]
16 Huynh JM,Laukaitis CM.Panel testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer.Mol Genet Genomic Med 2016;4:232-236[PMID:27064202DOI:10.1002/mgg3.197]
17 Syngal S,Brand RE,Church JM,Giardiello FM,Hampel HL,Burt RW;American College of Gastroenterology.ACG clinical guideline:Genetic testing and management of hereditary gastrointestinal cancer syndromes.Am J Gastroenterol 2015;110:223-62;quiz 263[PMID:25645574 DOI:10.1038/ajg.2014.435]
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19 Hallowell N,Badger S,Richardson S,Caldas C,Hardwick RH,Fitzgerald RC,Lawton J.An investigation of the factors effecting high-risk individuals'decision-making about prophylactic total gastrectomy and surveillance for hereditary diffuse gastric cancer(HDGC).Fam Cancer 2016;15:665-676[PMID:27256430 DOI:10.1007/s10689-016-9910-8]
20 Hallowell N,Lawton J,Badger S,Richardson S,Hardwick RH,Caldas C,Fitzgerald RC.The Psychosocial Impact of Undergoing Prophylactic Total Gastrectomy(PTG)to Manage the Risk of Hereditary Diffuse Gastric Cancer(HDGC).J Genet Couns 2017;26:752-762[PMID:27837291 DOI:10.1007/s10897-016-0045-8]
21 Moslim MA,Heald B,Tu C,Burke CA,Walsh RM.Early genetic counseling and detection of CDH1mutation in asymptomatic carriers improves survival in hereditary diffuse gastric cancer.Surgery 2018;164:754-759[PMID:30145018 DOI:10.1016/j.surg.2018.05.059]
22 Worster E,Liu X,Richardson S,Hardwick RH,Dwerryhouse S,Caldas C,Fitzgerald RC.The impact of prophylactic total gastrectomy on health-related quality of life:A prospective cohort study.Ann Surg 2014;260:87-93[PMID:24424140 DOI:10.1097/SLA.0000000000000446]
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2 Pe?ina-Slaus N.Tumor suppressor gene E-cadherin and its role in normal and malignant cells.Cancer Cell Int 2003;3:17[PMID:14613514 DOI:10.1186/1475-2867-3-17]
3 van der Post RS,Carneiro F.Emerging Concepts in Gastric Neoplasia:Heritable Gastric Cancers and Polyposis Disorders.Surg Pathol Clin 2017;10:931-945[PMID:29103540 DOI:10.1016/j.path.2017.07.011]
4 Jones EG.Familial Gastric Cancer.N Z Med J 1964;63:287-296[PMID:14158754]
5 Shaw D,Blair V,Framp A,Harawira P,McLeod M,Guilford P,Parry S,Charlton A,Martin I.Chromoendoscopic surveillance in hereditary diffuse gastric cancer:An alternative to prophylactic gastrectomy?Gut 2005;54:461-468[PMID:15753528 DOI:10.1136/gut.2004.049171]
6 de Almeida Artifon EL,Marinho FRT.Endoscopic screening for hereditary diffuse gastric cancer:One size does not fit all.Gastrointest Endosc 2018;87:405-407[PMID:29406927 DOI:10.1016/j.gie.2017.05.042]
7 Katona BW,Rustgi AK.Gastric Cancer Genomics:Advances and Future Directions.Cell Mol Gastroenterol Hepatol 2017;3:211-217[PMID:28275688 DOI:10.1016/j.jcmgh.2017.01.003]
8 Guilford P,Hopkins J,Harraway J,McLeod M,McLeod N,Harawira P,Taite H,Scoular R,Miller A,Reeve AE.E-cadherin germline mutations in familial gastric cancer.Nature 1998;392:402-405[PMID:9537325 DOI:10.1038/32918]
9 Hansford S,Kaurah P,Li-Chang H,Woo M,Senz J,Pinheiro H,Schrader KA,Schaeffer DF,Shumansky K,Zogopoulos G,Santos TA,Claro I,Carvalho J,Nielsen C,Padilla S,Lum A,Talhouk A,Baker-Lange K,Richardson S,Lewis I,Lindor NM,Pennell E,MacMillan A,Fernandez B,Keller G,Lynch H,Shah SP,Guilford P,Gallinger S,Corso G,Roviello F,Caldas C,Oliveira C,Pharoah PD,Huntsman DG.Hereditary Diffuse Gastric Cancer Syndrome:CDH1 Mutations and Beyond.JAMA Oncol 2015;1:23-32[PMID:26182300 DOI:10.1001/jamaoncol.2014.168]
10 Gaston D,Hansford S,Oliveira C,Nightingale M,Pinheiro H,Macgillivray C,Kaurah P,Rideout AL,Steele P,Soares G,Huang WY,Whitehouse S,Blowers S,LeBlanc MA,Jiang H,Greer W,Samuels ME,Orr A,Fernandez CV,Majewski J,Ludman M,Dyack S,Penney LS,McMaster CR,Huntsman D,Bedard K.Germline mutations in MAP3K6 are associated with familial gastric cancer.PLoS Genet 2014;10:e1004669[PMID:25340522 DOI:10.1371/journal.pgen.1004669]
11 Mi EZ,Mi EZ,di Pietro M,O'Donovan M,Hardwick RH,Richardson S,Ziauddeen H,Fletcher PC,Caldas C,Tischkowitz M,Ragunath K,Fitzgerald RC.Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status.Gastrointest Endosc 2018;87:408-418[PMID:28688938 DOI:10.1016/j.gie.2017.06.028]
12 Sugimoto S,Komatsu H,Morohoshi Y,Kanai T.Recognition of and recent issues in hereditary diffuse gastric cancer.J Gastroenterol 2015;50:831-843[PMID:26049741 DOI:10.1007/s00535-015-1093-9]
13 Weren RDA,van der Post RS,Vogelaar IP,van Krieken JH,Spruijt L,Lubinski J,Jakubowska A,Teodorczyk U,Aalfs CM,van Hest LP,Oliveira C,Kamping EJ,Schackert HK,Ranzani GN,Gómez García EB,Hes FJ,Holinski-Feder E,Genuardi M,Ausems MGEM,Sijmons RH,Wagner A,van der Kolk LE,Cats A,Bj?rnevoll I,Hoogerbrugge N,Ligtenberg MJL.Role of germline aberrations affecting CTNNA1,MAP3K6 and MYD88 in gastric cancer susceptibility.J Med Genet 2018;55:669-674[PMID:29330337 DOI:10.1136/jmedgenet-2017-104962]
14 Gullo I,Devezas V,Baptista M,Garrido L,Castedo S,Morais R,Wen X,Rios E,Pinheiro J,PintoRibeiro I,Ferreira RM,Preto J,Santos-Antunes J,Marques M,Campos M,Almeida F,Espinheira MDC,Amil Dias J,Figueiredo C,Oliveira C,Trindade E,Carneiro F.Phenotypic heterogeneity of hereditary diffuse gastric cancer:Report of a family with early-onset disease.Gastrointest Endosc 2018;87:1566-1575[PMID:29454568 DOI:10.1016/j.gie.2018.02.008]
15 Huntsman DG,Carneiro F,Lewis FR,MacLeod PM,Hayashi A,Monaghan KG,Maung R,Seruca R,Jackson CE,Caldas C.Early gastric cancer in young,asymptomatic carriers of germ-line E-cadherin mutations.N Engl J Med 2001;344:1904-1909[PMID:11419427 DOI:10.1056/NEJM200106213442504]
16 Huynh JM,Laukaitis CM.Panel testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer.Mol Genet Genomic Med 2016;4:232-236[PMID:27064202DOI:10.1002/mgg3.197]
17 Syngal S,Brand RE,Church JM,Giardiello FM,Hampel HL,Burt RW;American College of Gastroenterology.ACG clinical guideline:Genetic testing and management of hereditary gastrointestinal cancer syndromes.Am J Gastroenterol 2015;110:223-62;quiz 263[PMID:25645574 DOI:10.1038/ajg.2014.435]
18 van der Post RS,van Dieren J,Grelack A,Hoogerbrugge N,van der Kolk LE,Snaebjornsson P,Lansdorp-Vogelaar I,van Krieken JH,Bisseling TM,Cats A.Outcomes of screening gastroscopy in firstdegree relatives of patients fulfilling hereditary diffuse gastric cancer criteria.Gastrointest Endosc 2018;87:397-404.e2[PMID:28455161 DOI:10.1016/j.gie.2017.04.016]
19 Hallowell N,Badger S,Richardson S,Caldas C,Hardwick RH,Fitzgerald RC,Lawton J.An investigation of the factors effecting high-risk individuals'decision-making about prophylactic total gastrectomy and surveillance for hereditary diffuse gastric cancer(HDGC).Fam Cancer 2016;15:665-676[PMID:27256430 DOI:10.1007/s10689-016-9910-8]
20 Hallowell N,Lawton J,Badger S,Richardson S,Hardwick RH,Caldas C,Fitzgerald RC.The Psychosocial Impact of Undergoing Prophylactic Total Gastrectomy(PTG)to Manage the Risk of Hereditary Diffuse Gastric Cancer(HDGC).J Genet Couns 2017;26:752-762[PMID:27837291 DOI:10.1007/s10897-016-0045-8]
21 Moslim MA,Heald B,Tu C,Burke CA,Walsh RM.Early genetic counseling and detection of CDH1mutation in asymptomatic carriers improves survival in hereditary diffuse gastric cancer.Surgery 2018;164:754-759[PMID:30145018 DOI:10.1016/j.surg.2018.05.059]
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