SpringerLink
Log in

Prevalence and endoscopic treatment outcomes of upper gastrointestinal neoplasms in familial adenomatous polyposis

  • Published:
Surgical Endoscopy Aims and scope Submit manuscript

Abstract

Background

Although upper gastrointestinal (GI) neoplasms are not rare in patients with familial adenomatous polyposis (FAP), few studies have focused on them and the long-term outcomes of their treatment by endoscopy. Therefore, we aimed to investigate the prevalence and endoscopic treatment outcomes of upper GI neoplasms in patients with FAP.

Methods

Among 215 patients diagnosed with FAP between January 1991 and December 2019, 208 who underwent esophagogastroduodenoscopy were eligible. The clinical features and endoscopic treatment outcomes of upper GI neoplasms were retrospectively investigated and analyzed.

Results

Among the enrolled patients, 113 (54.3%) had one or more upper GI neoplasms: gastric adenoma (n = 34), gastric cancer (n = 7), nonampullary duodenal adenoma (n = 86), and ampullary adenoma (n = 53). Among patients with gastric neoplasms (n = 37), 24 (64.9%) underwent treatment (endoscopic treatment: 22, surgery: 2). No tumor-related mortality occurred during median follow-up of 106 months (interquartile range [IQR] 63–174). Endoscopic treatment was performed in 47 (54.7%) of 86 patients with nonampullary duodenal adenoma and in 32 (60.4%) of 53 patients with ampullary adenoma. No patient underwent surgery for duodenal neoplasms, and no tumor-related mortality occurred during median follow-up of 88 months (IQR 42–145). The proportion of patients with increased Spigelman stage at 2 years after the initial diagnosis or treatment was significantly higher in untreated group than in the group treated for duodenal neoplasms (27.3% vs. 0.0%, p = 0.001).

Conclusion

Endoscopic surveillance in FAP patients is important for the detection and treatment of upper GI neoplasms in early stage. In particular, endoscopic therapy for duodenal neoplasms can reduce the severity of duodenal polyposis.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Subscribe and save

Springer+ Basic
EUR 32.99 /Month
  • Get 10 units per month
  • Download Article/Chapter or Ebook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Price includes VAT (Germany)

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4

Similar content being viewed by others

References

  1. Brosens LA, Keller JJ, Offerhaus GJ, Goggins M, Giardiello FM (2005) Prevention and management of duodenal polyps in familial adenomatous polyposis. Gut 54:1034–1043

    Article  CAS  Google Scholar 

  2. Järvinen H, Nyberg M, Peltokallio P (1983) Upper gastrointestinal tract polyps in familial adenomatosis coli. Gut 24:333–339

    Article  Google Scholar 

  3. Gallagher MC, Phillips RK, Bulow S (2006) Surveillance and management of upper gastrointestinal disease in familial adenomatous polyposis. Fam Cancer 5:263–273

    Article  Google Scholar 

  4. Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW (2015) ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol 110:223–262 (quiz 263)

    Article  Google Scholar 

  5. Yang J, Gurudu SR, Koptiuch C, Agrawal D, Buxbaum JL, Abbas Fehmi SM, Fishman DS, Khashab MA, Jamil LH, Jue TL, Law JK, Lee JK, Naveed M, Qumseya BJ, Sawhney MS, Thosani N, Wani SB, Samadder NJ (2020) American Society for Gastrointestinal Endoscopy guideline on the role of endoscopy in familial adenomatous polyposis syndromes. Gastrointest Endosc 91:963–982

    Article  Google Scholar 

  6. Aihara H, Kumar N, Thompson CC (2014) Diagnosis, surveillance, and treatment strategies for familial adenomatous polyposis: rationale and update. Eur J Gastroenterol Hepatol 26:255–262

    Article  Google Scholar 

  7. Garrean S, Hering J, Saied A, Jani J, Espat NJ (2008) Gastric adenocarcinoma arising from fundic gland polyps in a patient with familial adenomatous polyposis syndrome. Am Surg 74:79–83

    Article  Google Scholar 

  8. Hofgärtner WT, Thorp M, Ramus MW, Delorefice G, Chey WY, Ryan CK, Takahashi GW, Lobitz JR (1999) Gastric adenocarcinoma associated with fundic gland polyps in a patient with attenuated familial adenomatous polyposis. Am J Gastroenterol 94:2275–2281

    Article  Google Scholar 

  9. Bianchi LK, Burke CA, Bennett AE, Lopez R, Hasson H, Church JM (2008) Fundic gland polyp dysplasia is common in familial adenomatous polyposis. Clin Gastroenterol Hepatol 6:180–185

    Article  Google Scholar 

  10. Park SY, Ryu JK, Park JH, Yoon H, Kim JY, Yoon YB, Park JG, Lee SH, Kang SB, Park JW, Oh JH (2011) Prevalence of gastric and duodenal polyps and risk factors for duodenal neoplasm in korean patients with familial adenomatous polyposis. Gut Liver 5:46–51

    Article  Google Scholar 

  11. Roos VH, Bastiaansen BA, Kallenberg FGJ, Aelvoet AS, Bossuyt PMM, Fockens P, Dekker E (2021) Endoscopic management of duodenal adenomas in patients with familial adenomatous polyposis. Gastrointest Endosc 93:457–466

    Article  Google Scholar 

  12. Campos FG, Martinez CAR, Sulbaran M, Bustamante-Lopez LA, Safatle-Ribeiro AV (2019) Upper gastrointestinal neoplasia in familial adenomatous polyposis: prevalence, endoscopic features and management. J Gastrointest Oncol 10:734–744

    Article  Google Scholar 

  13. Spigelman AD, Williams CB, Talbot IC, Domizio P, Phillips RK (1989) Upper gastrointestinal cancer in patients with familial adenomatous polyposis. Lancet 334:783–785

    Article  Google Scholar 

  14. Jang YH, Lim SB, Kim MJ, Chung HJ, Yoo HW, Byeon JS, Myung SJ, Lee W, Chun S, Min WK (2010) Three novel mutations of the APC gene in Korean patients with familial adenomatous polyposis. Cancer Genet Cytogenet 200:34–39

    Article  CAS  Google Scholar 

  15. O’Leary NA, Wright MW, Brister JR, Ciufo S, Haddad D, McVeigh R, Rajput B, Robbertse B, Smith-White B, Ako-Adjei D, Astashyn A, Badretdin A, Bao Y, Blinkova O, Brover V, Chetvernin V, Choi J, Cox E, Ermolaeva O, Farrell CM, Goldfarb T, Gupta T, Haft D, Hatcher E, Hlavina W, Joardar VS, Kodali VK, Li W, Maglott D, Masterson P, McGarvey KM, Murphy MR, O’Neill K, Pujar S, Rangwala SH, Rausch D, Riddick LD, Schoch C, Shkeda A, Storz SS, Sun H, Thibaud-Nissen F, Tolstoy I, Tully RE, Vatsan AR, Wallin C, Webb D, Wu W, Landrum MJ, Kimchi A, Tatusova T, DiCuccio M, Kitts P, Murphy TD, Pruitt KD (2016) Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation. Nucleic Acids Res 44:D733–D745

    Article  CAS  Google Scholar 

  16. Ngamruengphong S, Boardman LA, Heigh RI, Krishna M, Roberts ME, Riegert-Johnson DL (2014) Gastric adenomas in familial adenomatous polyposis are common, but subtle, and have a benign course. Hered Cancer Clin Pract 12:4

    Article  Google Scholar 

  17. Leone PJ, Mankaney G, Sarvapelli S, Abushamma S, Lopez R, Cruise M, LaGuardia L, O’Malley M, Church JM, Kalady MF, Burke CA (2019) Endoscopic and histologic features associated with gastric cancer in familial adenomatous polyposis. Gastrointest Endosc 89:961–968

    Article  Google Scholar 

  18. Wood LD, Salaria SN, Cruise MW, Giardiello FM, Montgomery EA (2014) Upper GI tract lesions in familial adenomatous polyposis (FAP): enrichment of pyloric gland adenomas and other gastric and duodenal neoplasms. Am J Surg Pathol 38:389–393

    Article  Google Scholar 

  19. Angsuwatcharakon P, Ahmed O, Lynch PM, Lum P, Gonzalez GN, Weston B, Coronel E, Katz MHG, Folloder J, Lee JH (2020) Management of ampullary adenomas in familial adenomatous polyposis syndrome: 16 years of experience from a tertiary cancer center. Gastrointest Endosc 92:323–330

    Article  Google Scholar 

  20. Martin I, Roos VH, Anele C, Walton SJ, Cuthill V, Suzuki N, Bastiaansen BA, Clark SK, von Roon A, Dekker E, Latchford A (2020) Gastric adenomas and their management in familial adenomatous polyposis. Endoscopy. https://doi.org/10.1055/a-1265-2716

    Article  PubMed  PubMed Central  Google Scholar 

  21. Rahman R, Asombang AW, Ibdah JA (2014) Characteristics of gastric cancer in Asia. World J Gastroenterol 20:4483–4490

    Article  Google Scholar 

  22. Offerhaus GJ, Giardiello FM, Krush AJ, Booker SV, Tersmette AC, Kelley NC, Hamilton SR (1992) The risk of upper gastrointestinal cancer in familial adenomatous polyposis. Gastroenterology 102:1980–1982

    Article  CAS  Google Scholar 

  23. Mankaney G, Leone P, Cruise M, LaGuardia L, O’Malley M, Bhatt A, Church J, Burke CA (2017) Gastric cancer in FAP: a concerning rise in incidence. Fam Cancer 16:371–376

    Article  Google Scholar 

  24. Walton SJ, Frayling IM, Clark SK, Latchford A (2017) Gastric tumours in FAP. Fam Cancer 16:363–369

    Article  Google Scholar 

  25. Heiskanen I, Kellokumpu I, Järvinen H (1999) Management of duodenal adenomas in 98 patients with familial adenomatous polyposis. Endoscopy 31:412–416

    Article  CAS  Google Scholar 

  26. Bülow S, Björk J, Christensen IJ, Fausa O, Järvinen H, Moesgaard F, Vasen HF, DAF Study Group (2004) Duodenal adenomatosis in familial adenomatous polyposis. Gut 53:381–386

    Article  Google Scholar 

  27. Groves CJ, Saunders BP, Spigelman AD, Phillips RK (2002) Duodenal cancer in patients with familial adenomatous polyposis (FAP): results of a 10 year prospective study. Gut 50:636–641

    Article  CAS  Google Scholar 

  28. Lepistö A, Kiviluoto T, Halttunen J, Järvinen HJ (2009) Surveillance and treatment of duodenal adenomatosis in familial adenomatous polyposis. Endoscopy 41:504–509

    Article  Google Scholar 

  29. Zhang L, Shay JW (2017) Multiple roles of APC and its therapeutic implications in colorectal cancer. J Natl Cancer Inst 109:djw332

    Article  Google Scholar 

  30. Enomoto M, Konishi M, Iwama T, Utsunomiya J, Sugihara KI, Miyaki M (2000) The relationship between frequencies of extracolonic manifestations and the position of APC germline mutation in patients with familial adenomatous polyposis. Jpn J Clin Oncol 30:82–88

    Article  CAS  Google Scholar 

  31. Bertario L, Russo A, Sala P, Varesco L, Giarola M, Mondini P, Pierotti M, Spinelli P, Radice P (2003) Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis. J Clin Oncol 21:1698–1707

    Article  CAS  Google Scholar 

  32. Disciglio V, Fasano C, Cariola F, Forte G, Grossi V, Sanese P, Lepore Signorile M, Resta N, Lotesoriere C, Stella A, Lolli I, Simone C (2020) Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3’-end. J Med Genet 57:356–360

    Article  CAS  Google Scholar 

Download references

Funding

This study did not receive a specific grant from any funding agency in the public, commercial, or not-for-profit sectors.

Author information

Author notes

  1. ** Hee Noh and Eun Mi Song have contributed to this study equally.

Authors and Affiliations

  1. Department of Gastroenterology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

    ** Hee Noh, Ji Yong Ahn, Dong-Hoon Yang, Hee Kyong Na, Jeong Hoon Lee, Kee Wook Jung, Do Hoon Kim, Kee Don Choi, Ho June Song, Gin Hyug Lee & Hwoon-Yong Jung

  2. Department of Gastroenterology, Ewha Womans University Medical Center, Seoul, Korea

    Eun Mi Song

  3. Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

    Woochang Lee, **young Hong & Aram Kim

Authors
  1. ** Hee Noh
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Eun Mi Song
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Ji Yong Ahn
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Dong-Hoon Yang
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Woochang Lee
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. **young Hong
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Aram Kim
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Hee Kyong Na
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Jeong Hoon Lee
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Kee Wook Jung
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Do Hoon Kim
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. Kee Don Choi
    View author publications

    You can also search for this author in PubMed Google Scholar

  13. Ho June Song
    View author publications

    You can also search for this author in PubMed Google Scholar

  14. Gin Hyug Lee
    View author publications

    You can also search for this author in PubMed Google Scholar

  15. Hwoon-Yong Jung
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding authors

Correspondence to Ji Yong Ahn or Dong-Hoon Yang.

Ethics declarations

Disclosures

** Hee Noh, Eun Mi Song, Ji Yong Ahn, Dong-Hoon Yang, Woochang Lee, **young Hong, Aram Kim, Hee Kyong Na, Jeong Hoon Lee, Kee Wook Jung, Do Hoon Kim, Kee Don Choi, Ho June Song, Gin Hyug Lee, and Hwoon-Yong Jung have no conflicts of interest or financial ties to disclose.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary Information

Below is the link to the electronic supplementary material.

Supplementary Information 1 (DOCX 21 kb)

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Noh, J.H., Song, E.M., Ahn, J.Y. et al. Prevalence and endoscopic treatment outcomes of upper gastrointestinal neoplasms in familial adenomatous polyposis. Surg Endosc 36, 1310–1319 (2022). https://doi.org/10.1007/s00464-021-08406-0

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00464-021-08406-0

Keywords

Search

Navigation