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Hyperplastic polyposis syndrome

MedGen UID:
1645454
•Concept ID:
C4296896
•
Neoplastic Process
Synonyms: Colorectal Serrated Polyposis; Colorectal Serrated Polyposis Syndrome; Hyperplastic Polyposis Syndrome; hyperplastic polyposis syndrome; Serrated polyposis; serrated polyposis; Serrated polyposis syndrome
SNOMED CT: Serrated polyposis (763536006); Hyperplastic polyposis syndrome (763536006)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Non-Mendelian inheritance
MedGen UID:
109109
•Concept ID:
C0600599
•
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Autosomal dominant inheritance (Orphanet)
Non-Mendelian inheritance (Orphanet)
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015524
Orphanet: ORPHA157798

Definition

A rare genetic intestinal disease with the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer. There is evidence this disease is caused by heterozygous mutation in the RNF43 gene on chromosome 17q22. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHyperplastic polyposis syndrome

Professional guidelines

PubMed

ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
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
Sporadic and syndromic hyperplastic polyps and serrated adenomas of the colon: classification, molecular genetics, natural history, and clinical management.
East JE, Saunders BP, Jass JR
Gastroenterol Clin North Am 2008 Mar;37(1):25-46, v. doi: 10.1016/j.gtc.2007.12.014. PMID: 18313538

Recent clinical studies

Etiology

ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
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
Defining phenotypes and cancer risk in hyperplastic polyposis syndrome.
Kalady MF, Jarrar A, Leach B, LaGuardia L, O'Malley M, Eng C, Church JM
Dis Colon Rectum 2011 Feb;54(2):164-70. doi: 10.1007/DCR.0b013e3181fd4c15. PMID: 21228663
Hyperplastic polyposis syndrome: a pilot study for the differentiation of polyps by using high-resolution endoscopy, autofluorescence imaging, and narrow-band imaging.
Boparai KS, van den Broek FJ, van Eeden S, Fockens P, Dekker E
Gastrointest Endosc 2009 Nov;70(5):947-55. doi: 10.1016/j.gie.2009.03.1172. PMID: 19595313
Colorectal polyposes: from phenotype to diagnosis.
Jass JR
Pathol Res Pract 2008;204(7):431-47. Epub 2008 Jun 9 doi: 10.1016/j.prp.2008.03.008. PMID: 18541388
Molecular classification and genetic pathways in hyperplastic polyposis syndrome.
Carvajal-Carmona LG, Howarth KM, Lockett M, Polanco-Echeverry GM, Volikos E, Gorman M, Barclay E, Martin L, Jones AM, Saunders B, Guenther T, Donaldson A, Paterson J, Frayling I, Novelli MR, Phillips R, Thomas HJ, Silver A, Atkin W, Tomlinson IP
J Pathol 2007 Aug;212(4):378-85. doi: 10.1002/path.2187. PMID: 17503413

Diagnosis

ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
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
Defining phenotypes and cancer risk in hyperplastic polyposis syndrome.
Kalady MF, Jarrar A, Leach B, LaGuardia L, O'Malley M, Eng C, Church JM
Dis Colon Rectum 2011 Feb;54(2):164-70. doi: 10.1007/DCR.0b013e3181fd4c15. PMID: 21228663
Colorectal polyposes: from phenotype to diagnosis.
Jass JR
Pathol Res Pract 2008;204(7):431-47. Epub 2008 Jun 9 doi: 10.1016/j.prp.2008.03.008. PMID: 18541388
Sporadic and syndromic hyperplastic polyps and serrated adenomas of the colon: classification, molecular genetics, natural history, and clinical management.
East JE, Saunders BP, Jass JR
Gastroenterol Clin North Am 2008 Mar;37(1):25-46, v. doi: 10.1016/j.gtc.2007.12.014. PMID: 18313538
Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYH.
Chow E, Lipton L, Lynch E, D'Souza R, Aragona C, Hodgkin L, Brown G, Winship I, Barker M, Buchanan D, Cowie S, Nasioulas S, du Sart D, Young J, Leggett B, Jass J, Macrae F
Gastroenterology 2006 Jul;131(1):30-9. doi: 10.1053/j.gastro.2006.03.046. PMID: 16831587

Therapy

Increased polyp detection using narrow band imaging compared with high resolution endoscopy in patients with hyperplastic polyposis syndrome.
Boparai KS, van den Broek FJ, van Eeden S, Fockens P, Dekker E
Endoscopy 2011 Aug;43(8):676-82. Epub 2011 Aug 2 doi: 10.1055/s-0030-1256447. PMID: 21811939
Hyperplastic polyposis syndrome is associated with cigarette smoking, which may be a modifiable risk factor.
Walker RG, Landmann JK, Hewett DG, Worthley DL, Buttenshaw RL, Knight N, Webb PM, Whiteman DC, Whitehall VL, Leggett BA
Am J Gastroenterol 2010 Jul;105(7):1642-7. Epub 2010 Feb 2 doi: 10.1038/ajg.2009.757. PMID: 20125129

Prognosis

ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
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
Phenotypic characterization and familial risk in hyperplastic polyposis syndrome.
Caetano AC, Ferreira H, Soares J, Ferreira A, Gonçalves R, Rolanda C
Scand J Gastroenterol 2013 Oct;48(10):1166-72. doi: 10.3109/00365521.2013.830329. PMID: 24047395
Increased colorectal cancer risk during follow-up in patients with hyperplastic polyposis syndrome: a multicentre cohort study.
Boparai KS, Mathus-Vliegen EM, Koornstra JJ, Nagengast FM, van Leerdam M, van Noesel CJ, Houben M, Cats A, van Hest LP, Fockens P, Dekker E
Gut 2010 Aug;59(8):1094-100. Epub 2009 Aug 25 doi: 10.1136/gut.2009.185884. PMID: 19710031
Sporadic and syndromic hyperplastic polyps and serrated adenomas of the colon: classification, molecular genetics, natural history, and clinical management.
East JE, Saunders BP, Jass JR
Gastroenterol Clin North Am 2008 Mar;37(1):25-46, v. doi: 10.1016/j.gtc.2007.12.014. PMID: 18313538

Clinical prediction guides

ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
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
Investigating the potential role of genetic and epigenetic variation of DNA methyltransferase genes in hyperplastic polyposis syndrome.
Drini M, Wong NC, Scott HS, Craig JM, Dobrovic A, Hewitt CA, Dow C, Young JP, Jenkins MA, Saffery R, Macrae FA
PLoS One 2011 Feb 10;6(2):e16831. doi: 10.1371/journal.pone.0016831. PMID: 21347319Free PMC Article
Hyperplastic polyposis syndrome is associated with cigarette smoking, which may be a modifiable risk factor.
Walker RG, Landmann JK, Hewett DG, Worthley DL, Buttenshaw RL, Knight N, Webb PM, Whiteman DC, Whitehall VL, Leggett BA
Am J Gastroenterol 2010 Jul;105(7):1642-7. Epub 2010 Feb 2 doi: 10.1038/ajg.2009.757. PMID: 20125129
Serrated pathway colorectal cancer in the population: genetic consideration.
Young J, Jenkins M, Parry S, Young B, Nancarrow D, English D, Giles G, Jass J
Gut 2007 Oct;56(10):1453-9. Epub 2007 Jun 12 doi: 10.1136/gut.2007.126870. PMID: 17566021Free PMC Article
Molecular classification and genetic pathways in hyperplastic polyposis syndrome.
Carvajal-Carmona LG, Howarth KM, Lockett M, Polanco-Echeverry GM, Volikos E, Gorman M, Barclay E, Martin L, Jones AM, Saunders B, Guenther T, Donaldson A, Paterson J, Frayling I, Novelli MR, Phillips R, Thomas HJ, Silver A, Atkin W, Tomlinson IP
J Pathol 2007 Aug;212(4):378-85. doi: 10.1002/path.2187. PMID: 17503413

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