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Intestinal polyposis

MedGen UID:
219797
Concept ID:
C1257915
Disease or Syndrome
Synonyms: Intestinal Polyposis; Polyposis, Intestinal
 
HPO: HP:0200008
Monarch Initiative: MONDO:0024292

Definition

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

Conditions with this feature

McCune-Albright syndrome
MedGen UID:
69164
Concept ID:
C0242292
Disease or Syndrome
Fibrous dysplasia / McCune-Albright syndrome (FD/MAS), the result of an early embryonic postzygotic somatic activating pathogenic variant in GNAS (encoding the cAMP pathway-associated G-protein, Gsa), is characterized by involvement of the skin, skeleton, and certain endocrine organs. However, because Gsa signaling is ubiquitous, additional tissues may be affected. Café au lait skin macules are common and are usually the first manifestation of the disease, apparent at or shortly after birth. Fibrous dysplasia (FD), which can involve any part and combination of the craniofacial, axial, and/or appendicular skeleton, can range from an isolated, asymptomatic monostotic lesion discovered incidentally to severe disabling polyostotic disease involving practically the entire skeleton and leading to progressive scoliosis, facial deformity, and loss of mobility, vision, and/or hearing. Endocrinopathies include: Gonadotropin-independent precocious puberty resulting from recurrent ovarian cysts in girls and autonomous testosterone production in boys; Testicular lesions with or without associated gonadotropin-independent precocious puberty; Thyroid lesions with or without non-autoimmune hyperthyroidism; Growth hormone excess; FGF23-mediated phosphate wasting with or without hypophosphatemia in association with fibrous dysplasia; and Neonatal hypercortisolism. The prognosis for individuals with FD/MAS is based on disease location and severity.
Polyposis, intestinal, with multiple exostoses
MedGen UID:
401357
Concept ID:
C1868005
Neoplastic Process
Cowden syndrome 7
MedGen UID:
908796
Concept ID:
C4225179
Disease or Syndrome
Cowden syndrome is a genetic disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.\n\nAlmost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties.\n\nCowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include kidney cancer, colorectal cancer, and an agressive form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. People with Cowden syndrome are also more likely to develop more than one cancer during their lifetimes compared to the general population. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development, intellectual disability, or autism spectrum disorder, which can affect communication and social interaction.\n\nSome people do not meet the strict criteria for a clinical diagnosis of Cowden syndrome, but they have some of the characteristic features of the condition, particularly the cancers. These individuals are often described as having Cowden-like syndrome. Both Cowden syndrome and Cowden-like syndrome are caused by mutations in the same genes.\n\nThe features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors.  Some people with Cowden syndrome have relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other affected individuals have the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome (named for the genetic cause of the conditions) instead of two distinct conditions.\n\n
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
MedGen UID:
1677803
Concept ID:
C5193005
Disease or Syndrome
GIST-plus syndrome (GISTPS) is an autosomal dominant disorder characterized by incomplete penetrance of multiple mesenchymal tumors of the gastrointestinal tract, including gastrointestinal stromal tumor (GIST), inflammatory fibroid polyps (IFP), and fibroid tumors (FT). Some patients have been reported with coarse facies and skin, broad hands and feet, and premature tooth loss. Isolated GISTs and IFPs are seen in patients with somatic PDGFRA mutations (summary by Manley et al., 2018).

Professional guidelines

PubMed

Zhu LH, Dong J, Li WL, Kou ZY, Yang J
Dig Dis Sci 2023 Jul;68(7):2799-2810. Epub 2023 Mar 2 doi: 10.1007/s10620-023-07890-9. PMID: 36862359Free PMC Article
Benech N, Bonvalot S, Dufresne A, Gangi A, Le Péchoux C, Lopez-Trabada-Ataz D, Meurgey A, Nicolas N, Orbach D, Penel N, Salas S, Saurin JC, Walter T, Lecomte T, Bouché O; Thésaurus National de Cancérologie Digestive (TNCD); Société Nationale Française de Gastroentérologie (SNFGE); Fédération Francophone de Cancérologie Digestive (FFCD); Groupe Coopérateur multidisciplinaire en Oncologie (GERCOR); Fédération Nationale des Centres de Lutte Contre le Cancer (UNICANCER); Société Française de Chirurgie Digestive (SFCD); Société Française d'Endoscopie Digestive (SFED); Société Française de Radiothérapie Oncologique (SFRO); Association de Chirurgie Hépato-Bilio-Pancréatique et Transplantation (ACHBT); Société Française de Radiologie (SFR)
Dig Liver Dis 2022 Jun;54(6):737-746. Epub 2022 May 1 doi: 10.1016/j.dld.2022.03.004. PMID: 35508462
Gupta RA, Dubois RN
Am J Physiol Gastrointest Liver Physiol 2002 Aug;283(2):G266-9. doi: 10.1152/ajpgi.00486.2001. PMID: 12121872

Recent clinical studies

Etiology

Monahan KJ, Bradshaw N, Dolwani S, Desouza B, Dunlop MG, East JE, Ilyas M, Kaur A, Lalloo F, Latchford A, Rutter MD, Tomlinson I, Thomas HJW, Hill J; Hereditary CRC guidelines eDelphi consensus group
Gut 2020 Mar;69(3):411-444. Epub 2019 Nov 28 doi: 10.1136/gutjnl-2019-319915. PMID: 31780574Free PMC Article
Ma H, Brosens LAA, Offerhaus GJA, Giardiello FM, de Leng WWJ, Montgomery EA
Pathology 2018 Jan;50(1):49-59. Epub 2017 Nov 21 doi: 10.1016/j.pathol.2017.09.004. PMID: 29169633
Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology
Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263. Epub 2015 Feb 3 doi: 10.1038/ajg.2014.435. PMID: 25645574Free PMC Article
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
Zbuk KM, Eng C
Nat Clin Pract Gastroenterol Hepatol 2007 Sep;4(9):492-502. doi: 10.1038/ncpgasthep0902. PMID: 17768394

Diagnosis

Kwon J, Fluxá-Cardenas D, Francis D
Clin Gastroenterol Hepatol 2022 Jun;20(6):e1224-e1225. Epub 2021 Sep 4 doi: 10.1016/j.cgh.2021.08.054. PMID: 34492384
Monahan KJ, Bradshaw N, Dolwani S, Desouza B, Dunlop MG, East JE, Ilyas M, Kaur A, Lalloo F, Latchford A, Rutter MD, Tomlinson I, Thomas HJW, Hill J; Hereditary CRC guidelines eDelphi consensus group
Gut 2020 Mar;69(3):411-444. Epub 2019 Nov 28 doi: 10.1136/gutjnl-2019-319915. PMID: 31780574Free PMC Article
Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology
Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263. Epub 2015 Feb 3 doi: 10.1038/ajg.2014.435. PMID: 25645574Free PMC Article
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
Zbuk KM, Eng C
Nat Clin Pract Gastroenterol Hepatol 2007 Sep;4(9):492-502. doi: 10.1038/ncpgasthep0902. PMID: 17768394

Therapy

Losurdo G, Di Leo M, Rizzi S, Lacavalla I, Celiberto F, Iannone A, Rendina M, Ierardi E, Iabichino G, De Luca L, Di Leo A
Expert Rev Gastroenterol Hepatol 2023 Jul-Dec;17(8):811-816. Epub 2023 Jul 29 doi: 10.1080/17474124.2023.2242240. PMID: 37515779
Huang JG, Tanpowpong P
World J Gastroenterol 2023 May 14;29(18):2717-2732. doi: 10.3748/wjg.v29.i18.2717. PMID: 37274071Free PMC Article
Pham JT, Kisiel JB, Sweetser S
Int J Colorectal Dis 2023 Feb 13;38(1):39. doi: 10.1007/s00384-023-04332-w. PMID: 36781513
Mangira D, Raftopoulos S, Vogrin S, Hartley I, Mack A, Gazelakis K, Nalankilli K, Trinh A, Metz AJ, Appleyard M, Grimpen F, Elliott T, Brown G, Moss A
Endoscopy 2023 Jul;55(7):627-635. Epub 2023 Feb 7 doi: 10.1055/a-2029-9539. PMID: 36750222
Biller LH, Ukaegbu C, Dhingra TG, Burke CA, Chertock Y, Chittenden A, Church JM, Koeppe ES, Leach BH, Levinson E, Lim RM, Lutz M, Salo-Mullen E, Sheikh R, Idos G, Kastrinos F, Stoffel E, Weiss JM, Hall MJ, Kalady MF, Stadler ZK, Syngal S, Yurgelun MB
Cancer Prev Res (Phila) 2020 Mar;13(3):291-298. Epub 2020 Feb 12 doi: 10.1158/1940-6207.CAPR-19-0416. PMID: 32051178Free PMC Article

Prognosis

Zhu LH, Dong J, Li WL, Kou ZY, Yang J
Dig Dis Sci 2023 Jul;68(7):2799-2810. Epub 2023 Mar 2 doi: 10.1007/s10620-023-07890-9. PMID: 36862359Free PMC Article
Gilad O, Rosner G, Fliss-Isakov N, Aharon-Kaspi S, Strul H, Gluck N, Kariv R
Clin Transl Gastroenterol 2019 May 22;10(5):1-9. doi: 10.14309/ctg.0000000000000035. PMID: 31107726Free PMC Article
Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology
Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263. Epub 2015 Feb 3 doi: 10.1038/ajg.2014.435. PMID: 25645574Free PMC Article
Lee GH, Payne SJ, Melville A, Clark SK
Colorectal Dis 2014 Aug;16(8):595-602. doi: 10.1111/codi.12600. PMID: 24612292
Lanza G, Messerini L, Gafà R, Risio M; Gruppo Italiano Patologi Apparato Digerente (GIPAD); Società Italiana di Anatomia Patologica e Citopatologia Diagnostica/International Academy of Pathology, Italian division (SIAPEC/IAP)
Dig Liver Dis 2011 Mar;43 Suppl 4:S344-55. doi: 10.1016/S1590-8658(11)60590-2. PMID: 21459340

Clinical prediction guides

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
Gilad O, Rosner G, Fliss-Isakov N, Aharon-Kaspi S, Strul H, Gluck N, Kariv R
Clin Transl Gastroenterol 2019 May 22;10(5):1-9. doi: 10.14309/ctg.0000000000000035. PMID: 31107726Free PMC Article
Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology
Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263. Epub 2015 Feb 3 doi: 10.1038/ajg.2014.435. PMID: 25645574Free PMC Article
Lee GH, Payne SJ, Melville A, Clark SK
Colorectal Dis 2014 Aug;16(8):595-602. doi: 10.1111/codi.12600. PMID: 24612292
Lanza G, Messerini L, Gafà R, Risio M; Gruppo Italiano Patologi Apparato Digerente (GIPAD); Società Italiana di Anatomia Patologica e Citopatologia Diagnostica/International Academy of Pathology, Italian division (SIAPEC/IAP)
Dig Liver Dis 2011 Mar;43 Suppl 4:S344-55. doi: 10.1016/S1590-8658(11)60590-2. PMID: 21459340

Recent systematic reviews

Singh AD, Gupta A, Mehta N, Heald B, Macaron C, Liska D, Bhatt A, Burke CA
Gastrointest Endosc 2023 Mar;97(3):407-414.e1. Epub 2022 Oct 18 doi: 10.1016/j.gie.2022.10.026. PMID: 36265529
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
Martin GM
Natl Cancer Inst Monogr 1982;60:241-7. PMID: 6214719

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