Diffuse gastric polyposis in a young patient with a giant retroperitoneal mass: A case report

Duan,Guangbing; Sun,Huihui; Chen,Ye; Wang,Junwen; Zeng,Yu; Ji,Shurong; Xiong,Jie; Chen,Ying; Liu,Wenfang; Xu,Shuchang

doi:10.3892/etm.2023.11925

Diffuse gastric polyposis in a young patient with a giant retroperitoneal mass: A case report

Authors:
- Guangbing Duan
- Huihui Sun
- Ye Chen
- Junwen Wang
- Yu Zeng
- Shurong Ji
- Jie Xiong
- Ying Chen
- Wenfang Liu
- Shuchang Xu
View Affiliations

Affiliations: Department of Gastroenterology, Tongji Institute of Digestive Disease, Tongji Hospital, School of Medicine, Tongji University, Shanghai 200065, P.R. China, Department of Pathology, Tongji Hospital, School of Medicine, Tongji University, Shanghai 200065, P.R. China, Department of General Surgery, Tongji Hospital, School of Medicine, Tongji University, Shanghai 200065, P.R. China, Department of Gastroenterology, Tongji Institute of Digestive Disease, Tongji Hospital, School of Medicine, Tongji University, Shanghai 200065, P.R. China, Department of General Surgery, Tongji Hospital, School of Medicine, Tongji University, Shanghai 200065, P.R. China
Published online on: March 30, 2023 https://doi.org/10.3892/etm.2023.11925
Article Number: 226

Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )

Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )

Cited By (CrossRef): 0 citations Loading Articles...

Abstract

Familial adenomatous polyposis (FAP) is characterized by hundreds of colonic adenomatous polyps and extraintestinal manifestations beginning in adolescence and early adulthood. It is also one of the most common hereditary colorectal cancer syndromes. In this case study, a rare phenotype of FAP associated with diffuse gastric polyposis, colon oligo‑polyposis, and a massive retroperitoneal mass is described. The results expand on the current body of knowledge of FAP and may represent a new phenotypic expression of FAP. Accurate evidence‑based surveillance and management recommendations for this disease require further research and evaluation.

View Figures

View References

1	Castro R, Pimentel-Nunes P and Dinis-Ribeiro M: Evaluation and management of gastric epithelial polyps. Best Pract Res Clin Gastroenterol. 31:381–387. 2017.PubMed/NCBI View Article : Google Scholar
2	Aelvoet AS, Buttitta F, Ricciardiello L and Dekker E: Management of familial adenomatous polyposis and MUTYH-associated polyposis; new insights. Best Pract Res Clin Gastroenterol. 58-59(101793)2022.PubMed/NCBI View Article : Google Scholar
3	Kanth P, Grimmett J, Champine M, Burt R and Samadder NJ: Hereditary colorectal polyposis and cancer syndromes: A primer on diagnosis and management. Am J Gastroenterol. 112:1509–1525. 2017.PubMed/NCBI View Article : Google Scholar
4	Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL and Burt RW: American College of Gastroenterology: ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 110:223–262; quiz 263. 2015.PubMed/NCBI View Article : Google Scholar
5	Anele CC, Martin I, McGinty Duggan PM, Chauhan J, Clark SK, Faiz OD and Latchford AR: Attenuated familial adenomatous polyposis: A phenotypic diagnosis but obsolete term? Dis Colon Rectum. 65:529–535. 2022.PubMed/NCBI View Article : Google Scholar
6	Novelli M: The pathology of hereditary polyposis syndromes. Histopathology. 66:78–87. 2015.PubMed/NCBI View Article : Google Scholar
7	Dinarvand P, Davaro EP, Doan JV, Ising ME, Evans NR, Phillips NJ, Lai J and Guzman MA: Familial adenomatous polyposis syndrome: An update and review of extraintestinal manifestations. Arch Pathol Lab Med. 143:1382–1398. 2019.PubMed/NCBI View Article : Google Scholar
8	Waldum H and Fossmark R: Gastritis, gastric polyps and gastric cancer. Int J Mol Sci. 22(6548)2021.PubMed/NCBI View Article : Google Scholar
9	Shaib YH, Rugge M, Graham DY and Genta RM: Management of gastric polyps: An endoscopy-based approach. Clin Gastroenterol Hepatol. 11:1374–1384. 2013.PubMed/NCBI View Article : Google Scholar
10	Mankaney GN, Cruise M, Sarvepalli S, Bhatt A, Arora Z, Baggot B, Laguardia L, O'Malley M, Church J, Kalady M and Burke CA: Surveillance for pathology associated with cancer on endoscopy (SPACE): Criteria to identify high-risk gastric polyps in familial adenomatous polyposis. Gastrointest Endosc. 92:755–762. 2020.PubMed/NCBI View Article : Google Scholar
11	Martin I, Roos VH, Anele C, Walton SJ, Cuthill V, Suzuki N, Bastiaansen BA, Clark SK, von Roon A, Dekker E and Latchford A: Gastric adenomas and their management in familial adenomatous polyposis. Endoscopy. 53:795–801. 2021.PubMed/NCBI View Article : Google Scholar
12	Oliveira C, Pinheiro H, Figueiredo J, Seruca R and Carneiro F: Familial gastric cancer: Genetic susceptibility, pathology, and implications for management. Lancet Oncol. 16:e60–e70. 2015.PubMed/NCBI View Article : Google Scholar
13	Repak R, Kohoutova D, Podhola M, Rejchrt S, Minarik M, Benesova L, Lesko M and Bures J: The first European family with gastric adenocarcinoma and proximal polyposis of the stomach: Case report and review of the literature. Gastrointest Endosc. 84:718–725. 2016.PubMed/NCBI View Article : Google Scholar
14	Dossa F, Morris AM, Wilson AR and Baxter NN: Life after surgery: Surgeon assessments of quality of life among patients with familial adenomatous polyposis. Dis Colon Rectum. 61:1217–1222. 2018.PubMed/NCBI View Article : Google Scholar
15	Posul E, Yilmaz B, Aktas G and Kurt M: Does neutrophil-to-lymphocyte ratio predict active ulcerative colitis? Wien Klin Wochenschr. 127:262–265. 2015.PubMed/NCBI View Article : Google Scholar
16	Aktas G, Alcelik A, Tekce BK, Tekelioglu V, Sit M and Savli H: Red cell distribution width and mean platelet volume in patients with irritable bowel syndrome. Prz Gastroenterol. 9:160–163. 2014.PubMed/NCBI View Article : Google Scholar
17	Belfiore A, Ciniselli CM, Signoroni S, Gariboldi M, Mancini A, Rivoltini L, Morelli D, Masci E, Bruno E, Macciotta A, et al: Preventive anti-inflammatory diet to reduce gastrointestinal inflammation in familial adenomatous polyposis patients: A prospective pilot study. Cancer Prev Res (Phila). 14:963–972. 2021.PubMed/NCBI View Article : Google Scholar
18	Zavros Y and Merchant JL: The immune microenvironment in gastric adenocarcinoma. Nat Rev Gastroenterol Hepatol. 19:451–467. 2022.PubMed/NCBI View Article : Google Scholar
19	Osman A, Yan B, Li Y, Pavelko KD, Quandt J, Saadalla A, Singh MP, Kazemian M, Gounari F and Khazaie K: TCF-1 controls T_reg cell functions that regulate inflammation, CD8(+) T cell cytotoxicity and severity of colon cancer. Nat Immunol. 22:1152–1162. 2021.PubMed/NCBI View Article : Google Scholar
20	Ishikawa H, Mutoh M, Sato Y, Doyama H, Tajika M, Tanaka S, Takeuchi Y, Kashida H, Tashiro J, Ezoe Y, et al: Chemoprevention with low-dose aspirin, mesalazine, or both in patients with familial adenomatous polyposis without previous colectomy (J-FAPP Study IV): A multicentre, double-blind, randomised, two-by-two factorial design trial. Lancet Gastroenterol Hepatol. 6:474–481. 2021.PubMed/NCBI View Article : Google Scholar
21	Ishikawa H, Mutoh M, Abe T, Nakajima T, Takeuchi Y, Ezoe Y, Wakabayashi K, Doyama H and Sakai T: Utility of mesalazine in familial adenomatous polyposis: Clinical report of reduction of polyp size in patients with ulcerative colitis, and safety examination in familial adenomatous polyposis patients. Pharmacology. 104:51–56. 2019.PubMed/NCBI View Article : Google Scholar
22	Maura CC, Eleonora B, Andreina O, Ivan B, Marta P, Stefano S, Marco V, Teresa RM, Massimo M, Laura C, et al: Management of dietary habits and diarrhea in fap individuals: A mediterranean low-inflammatory dietary intervention. Nutrients. 13(3988)2021.PubMed/NCBI View Article : Google Scholar
23	Pasanisi P, Gariboldi M, Verderio P, Signoroni S, Mancini A, Rivoltini L, Milione M, Masci E, Ciniselli CM, Bruno E, et al: A pilot low-inflammatory dietary intervention to reduce inflammation and improve quality of life in patients with familial adenomatous polyposis: Protocol description and preliminary results. Integr Cancer Ther. 18(1534735419846400)2019.PubMed/NCBI View Article : Google Scholar
24	Tong Y, Gao H, Qi Q, Liu X, Li J, Gao J, Li P, Wang Y, Du L and Wang C: High fat diet, gut microbiome and gastrointestinal cancer. Theranostics. 11:5889–5910. 2021.PubMed/NCBI View Article : Google Scholar
25	Gill PA, van Zelm MC, Muir JG and Gibson PR: Review article: Short chain fatty acids as potential therapeutic agents in human gastrointestinal and inflammatory disorders. Aliment Pharmacol Ther. 48:15–34. 2018.PubMed/NCBI View Article : Google Scholar
26	Dejea CM, Fathi P, Craig JM, Boleij A, Taddese R, Geis AL, Wu X, DeStefano Shields CE, Hechenbleikner EM, Huso DL, et al: Patients with familial adenomatous polyposis harbor colonic biofilms containing tumorigenic bacteria. Science. 359:592–597. 2018.PubMed/NCBI View Article : Google Scholar
27	Biondi A, Basile F and Vacante M: Familial adenomatous polyposis and changes in the gut microbiota: New insights into colorectal cancer carcinogenesis. World J Gastrointest Oncol. 13:495–508. 2021.PubMed/NCBI View Article : Google Scholar
28	Riedel RF and Agulnik M: Evolving strategies for management of desmoid tumor. Cancer. 128:3027–3040. 2022.PubMed/NCBI View Article : Google Scholar
29	Li J, Wang R, Zhou X, Wang W, Gao S, Mao Y, Wu X, Guo L, Liu H, Wen L, et al: Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis. Gut. 69:1283–1293. 2020.PubMed/NCBI View Article : Google Scholar
30	Zhang L and Shay JW: Multiple roles of APC and its therapeutic implications in colorectal cancer. J Natl Cancer Inst. 109(djw332)2017.PubMed/NCBI View Article : Google Scholar
31	Ghadamyari F, Heidari MM, Zeinali S, Khatami M, Merat S, Bagherian H, Rejali L and Ghasemi F: Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP). J Clin Lab Anal. 35(e23768)2021.PubMed/NCBI View Article : Google Scholar
32	Kim B, Won D, Jang M, Kim H, Choi JR, Kim TI and Lee ST: Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis. BMC Med Genomics. 12(103)2019.PubMed/NCBI View Article : Google Scholar
33	Disciglio V, Fasano C, Cariola F, Forte G, Grossi V, Sanese P, Lepore Signorile M, Resta N, Lotesoriere C, Stella A, et al: 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. 2020.PubMed/NCBI View Article : Google Scholar