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Large intestinal polyposis

MedGen UID:
868164
•Concept ID:
C4022556
•
Disease or Syndrome
HPO: HP:0030255

Definition

The presence of multiple polyps in the large intestine. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLarge intestinal polyposis

Conditions with this feature

Birt-Hogg-Dube syndrome 1
MedGen UID:
1051978
•Concept ID:
CN375946
•
Disease or Syndrome
Any Birt-Hogg-Dube (BHD) syndrome in which the cause of the disease is a variation in the FLCN gene.
See: Condition Record
Birt-Hogg-Dube syndrome 1

Professional guidelines

PubMed

Genetic predisposition to gastrointestinal polyposis: syndromes, tumour features, genetic testing, and clinical management.
Valle L, Monahan KJ
Lancet Gastroenterol Hepatol 2024 Jan;9(1):68-82. Epub 2023 Nov 4 doi: 10.1016/S2468-1253(23)00240-6. PMID: 37931640
Dispelling misconceptions in the management of familial adenomatous polyposis.
Chittleborough TJ, Warrier SK, Heriot AG, Kalady M, Church J
ANZ J Surg 2017 Jun;87(6):441-445. Epub 2017 Mar 7 doi: 10.1111/ans.13919. PMID: 28266097
Nonampullary duodenal adenoma: Current understanding of its diagnosis, pathogenesis, and clinical management.
Lim CH, Cho YS
World J Gastroenterol 2016 Jan 14;22(2):853-61. doi: 10.3748/wjg.v22.i2.853. PMID: 26811631Free PMC Article

Recent clinical studies

Etiology

Juvenile polyposis: Focus on less described manifestations.
Saurin JC, Calavas L, Caillot C
Best Pract Res Clin Gastroenterol 2022 Jun-Aug;58-59:101802. Epub 2022 Aug 4 doi: 10.1016/j.bpg.2022.101802. PMID: 35988968
Protective Role of Spermidine in Colitis and Colon Carcinogenesis.
Gobert AP, Latour YL, Asim M, Barry DP, Allaman MM, Finley JL, Smith TM, McNamara KM, Singh K, Sierra JC, Delgado AG, Luis PB, Schneider C, Washington MK, Piazuelo MB, Zhao S, Coburn LA, Wilson KT
Gastroenterology 2022 Mar;162(3):813-827.e8. Epub 2021 Nov 10 doi: 10.1053/j.gastro.2021.11.005. PMID: 34767785Free PMC Article
Polypoid disease of colon in children.
Soyer T
Pediatr Surg Int 2020 Apr;36(4):447-455. Epub 2020 Jan 21 doi: 10.1007/s00383-020-04621-3. PMID: 31965250
Juvenile polyposis syndrome.
Brosens LA, Langeveld D, van Hattem WA, Giardiello FM, Offerhaus GJ
World J Gastroenterol 2011 Nov 28;17(44):4839-44. doi: 10.3748/wjg.v17.i44.4839. PMID: 22171123Free PMC Article
Genetics of gastrointestinal polyposis.
Bussey HJ, Veale AM, Morson BC
Gastroenterology 1978 Jun;74(6):1325-30. PMID: 348556

Diagnosis

A large family with MSH3-related polyposis.
Aelvoet AS, Hoekman DR, Redeker BJW, Weegenaar J, Dekker E, van Noesel CJM, Duijkers FAM
Fam Cancer 2023 Jan;22(1):49-54. Epub 2022 Jun 8 doi: 10.1007/s10689-022-00297-x. PMID: 35675019Free PMC Article
Juvenile polyposis: Focus on less described manifestations.
Saurin JC, Calavas L, Caillot C
Best Pract Res Clin Gastroenterol 2022 Jun-Aug;58-59:101802. Epub 2022 Aug 4 doi: 10.1016/j.bpg.2022.101802. PMID: 35988968
Segmental Polyposis.
Wu S, Yang J, Turner JR
Gastroenterology 2020 Dec;159(6):e1-e2. Epub 2020 Apr 20 doi: 10.1053/j.gastro.2020.04.022. PMID: 32325087
Attenuated adenomatous polyposis of the large bowel: Present and future.
Roncucci L, Pedroni M, Mariani F
World J Gastroenterol 2017 Jun 21;23(23):4135-4139. doi: 10.3748/wjg.v23.i23.4135. PMID: 28694653Free PMC Article
Juvenile polyposis syndrome.
Brosens LA, Langeveld D, van Hattem WA, Giardiello FM, Offerhaus GJ
World J Gastroenterol 2011 Nov 28;17(44):4839-44. doi: 10.3748/wjg.v17.i44.4839. PMID: 22171123Free PMC Article

Therapy

Current Status and Surgical Technique for Restorative Proctocolectomy with Ileal Pouch Anal Anastomosis.
Aktaş MK, Gülmez M, Sahar AA, Saraçoğlu C, Esen E, Aytaç E, Remzi FH
Balkan Med J 2023 Jul 12;40(4):236-243. Epub 2023 Jun 23 doi: 10.4274/balkanmedj.galenos.2023.2023-5-12. PMID: 37350728Free PMC Article
Protective Role of Spermidine in Colitis and Colon Carcinogenesis.
Gobert AP, Latour YL, Asim M, Barry DP, Allaman MM, Finley JL, Smith TM, McNamara KM, Singh K, Sierra JC, Delgado AG, Luis PB, Schneider C, Washington MK, Piazuelo MB, Zhao S, Coburn LA, Wilson KT
Gastroenterology 2022 Mar;162(3):813-827.e8. Epub 2021 Nov 10 doi: 10.1053/j.gastro.2021.11.005. PMID: 34767785Free PMC Article
Streptococcus thermophilus Inhibits Colorectal Tumorigenesis Through Secreting β-Galactosidase.
Li Q, Hu W, Liu WX, Zhao LY, Huang D, Liu XD, Chan H, Zhang Y, Zeng JD, Coker OO, Kang W, Ng SSM, Zhang L, Wong SH, Gin T, Chan MTV, Wu JL, Yu J, Wu WKK
Gastroenterology 2021 Mar;160(4):1179-1193.e14. Epub 2020 Sep 11 doi: 10.1053/j.gastro.2020.09.003. PMID: 32920015
Aspirin Reduces Colorectal Tumor Development in Mice and Gut Microbes Reduce its Bioavailability and Chemopreventive Effects.
Zhao R, Coker OO, Wu J, Zhou Y, Zhao L, Nakatsu G, Bian X, Wei H, Chan AWH, Sung JJY, Chan FKL, El-Omar E, Yu J
Gastroenterology 2020 Sep;159(3):969-983.e4. Epub 2020 May 6 doi: 10.1053/j.gastro.2020.05.004. PMID: 32387495
Segmental Polyposis.
Wu S, Yang J, Turner JR
Gastroenterology 2020 Dec;159(6):e1-e2. Epub 2020 Apr 20 doi: 10.1053/j.gastro.2020.04.022. PMID: 32325087

Prognosis

Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract.
Wu H, Yu Z, Liu Y, Guo L, Teng L, Guo L, Liang L, Wang J, Gao J, Li R, Yang L, Nie X, Su D, Liang Z
Cancer Commun (Lond) 2022 Dec;42(12):1367-1386. Epub 2022 Oct 20 doi: 10.1002/cac2.12372. PMID: 36264285Free PMC Article
Multiple colon polyposis.
Buturovic S
Med Arch 2014 Jun;68(3):221-2. Epub 2014 May 31 doi: 10.5455/medarh.2014.68.221-222. PMID: 25568540Free PMC Article
Video capsule endoscopy: perspectives of a revolutionary technique.
Bouchard S, Ibrahim M, Van Gossum A
World J Gastroenterol 2014 Dec 14;20(46):17330-44. doi: 10.3748/wjg.v20.i46.17330. PMID: 25516644Free PMC Article
Ileal pouch-anal anastomosis: Points of controversy.
Trigui A, Frikha F, Rejab H, Ben Ameur H, Triki H, Ben Amar M, Mzali R
J Visc Surg 2014 Sep;151(4):281-8. Epub 2014 Jul 3 doi: 10.1016/j.jviscsurg.2014.05.004. PMID: 24999229
Pathology of colorectal cancer.
Ponz de Leon M, Di Gregorio C
Dig Liver Dis 2001 May;33(4):372-88. doi: 10.1016/s1590-8658(01)80095-5. PMID: 11432519

Clinical prediction guides

Genetic predisposition to gastrointestinal polyposis: syndromes, tumour features, genetic testing, and clinical management.
Valle L, Monahan KJ
Lancet Gastroenterol Hepatol 2024 Jan;9(1):68-82. Epub 2023 Nov 4 doi: 10.1016/S2468-1253(23)00240-6. PMID: 37931640
SMAD4 mutation and the combined juvenile polyposis and hereditary hemorrhage telangiectasia syndrome: a single center experience.
McDonald NM, Ramos GP, Sweetser S
Int J Colorectal Dis 2020 Oct;35(10):1963-1965. Epub 2020 Jun 15 doi: 10.1007/s00384-020-03670-3. PMID: 32556653
Phytoestrogens: Dietary Intake, Bioavailability, and Protective Mechanisms against Colorectal Neoproliferative Lesions.
Viggiani MT, Polimeno L, Di Leo A, Barone M
Nutrients 2019 Jul 24;11(8) doi: 10.3390/nu11081709. PMID: 31344966Free PMC Article
Attenuated adenomatous polyposis of the large bowel: Present and future.
Roncucci L, Pedroni M, Mariani F
World J Gastroenterol 2017 Jun 21;23(23):4135-4139. doi: 10.3748/wjg.v23.i23.4135. PMID: 28694653Free PMC Article
Video capsule endoscopy: perspectives of a revolutionary technique.
Bouchard S, Ibrahim M, Van Gossum A
World J Gastroenterol 2014 Dec 14;20(46):17330-44. doi: 10.3748/wjg.v20.i46.17330. PMID: 25516644Free PMC Article

Recent systematic reviews

Complications and functional outcomes after ileo-anal pouch excision-a systematic review of 14 retrospective observational studies.
MacDonald S, Au S, Thornton M, Macdonald A
Int J Colorectal Dis 2021 Apr;36(4):677-687. Epub 2021 Jan 20 doi: 10.1007/s00384-021-03838-5. PMID: 33471205
Lateral pararectal versus transrectal stoma placement for prevention of parastomal herniation.
Hardt J, Meerpohl JJ, Metzendorf MI, Kienle P, Post S, Herrle F
Cochrane Database Syst Rev 2019 Apr 24;4(4):CD009487. doi: 10.1002/14651858.CD009487.pub3. PMID: 31016723Free PMC Article
Low prevalence of serrated polyposis syndrome in screening populations: a systematic review.
van Herwaarden YJ, Verstegen MH, Dura P, Kievit W, Drenth JP, Dekker E, IJspeert JE, Hoogerbrugge N, Nagengast FM, Nagtegaal ID, Bisseling TM
Endoscopy 2015 Nov;47(11):1043-9. Epub 2015 Jun 30 doi: 10.1055/s-0034-1392411. PMID: 26126164
Colonic manifestations of PTEN hamartoma tumor syndrome: case series and systematic review.
Stanich PP, Pilarski R, Rock J, Frankel WL, El-Dika S, Meyer MM
World J Gastroenterol 2014 Feb 21;20(7):1833-8. doi: 10.3748/wjg.v20.i7.1833. PMID: 24587660Free PMC Article
Impact of ileal pouch-anal anastomosis on female fertility: meta-analysis and systematic review.
Rajaratnam SG, Eglinton TW, Hider P, Fearnhead NS
Int J Colorectal Dis 2011 Nov;26(11):1365-74. Epub 2011 Jul 16 doi: 10.1007/s00384-011-1274-9. PMID: 21766164

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