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Juvenile polyposis of infancy

MedGen UID:
1778573
•Concept ID:
C5445164
•
Neoplastic Process
Synonym: JUVENILE POLYPOSIS, INFANTILE
SNOMED CT: Juvenile polyposis of infancy (1156799009)
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.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0019190
Orphanet: ORPHA79076

Definition

Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis (see this term) and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life. [from ORDO]

Professional guidelines

PubMed

Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?
Rebuzzi F, Ulivi P, Tedaldi G
Int J Mol Sci 2023 Jan 21;24(3) doi: 10.3390/ijms24032137. PMID: 36768460Free PMC Article
Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG).
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
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

Recent clinical studies

Etiology

mTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in patients with juvenile polyposis of infancy with PTEN-BMPR1A deletion.
Taylor H, Yerlioglu D, Phen C, Ballauff A, Nedelkopoulou N, Spier I, Loverdos I, Busoni VB, Heise J, Dale P, de Meij T, Sweet K, Cohen MC, Fox VL, Mas E, Aretz S, Eng C, Buderus S, Thomson M, Rojas I, Uhlig HH
Hum Mol Genet 2021 Jun 26;30(14):1273-1282. doi: 10.1093/hmg/ddab094. PMID: 33822054Free PMC Article
Successful Treatment of Juvenile Polyposis of Infancy With Sirolimus.
Busoni VB, Orsi M, Lobos PA, D'Agostino D, Wagener M, De la Iglesia P, Fox VL
Pediatrics 2019 Aug;144(2) doi: 10.1542/peds.2018-2922. PMID: 31366686
Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22-23.
Dahdaleh FS, Carr JC, Calva D, Howe JR
Clin Genet 2012 Feb;81(2):110-6. Epub 2011 Sep 6 doi: 10.1111/j.1399-0004.2011.01763.x. PMID: 21834858Free PMC Article
Juvenile polyposis.
Desai DC, Neale KF, Talbot IC, Hodgson SV, Phillips RK
Br J Surg 1995 Jan;82(1):14-7. doi: 10.1002/bjs.1800820106. PMID: 7881943

Diagnosis

Successful Treatment of Juvenile Polyposis of Infancy With Sirolimus.
Busoni VB, Orsi M, Lobos PA, D'Agostino D, Wagener M, De la Iglesia P, Fox VL
Pediatrics 2019 Aug;144(2) doi: 10.1542/peds.2018-2922. PMID: 31366686
Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: surgical approach.
Oliveira PH, Cunha C, Almeida S, Ferreira R, Maia S, Saraiva JM, Lopes MF
J Pediatr Surg 2013 Jan;48(1):e33-7. doi: 10.1016/j.jpedsurg.2012.09.067. PMID: 23331837

Therapy

Successful Treatment of Juvenile Polyposis of Infancy With Sirolimus.
Busoni VB, Orsi M, Lobos PA, D'Agostino D, Wagener M, De la Iglesia P, Fox VL
Pediatrics 2019 Aug;144(2) doi: 10.1542/peds.2018-2922. PMID: 31366686
Juvenile polyposis of infancy associated with paracentric inversion and deletion of chromosome 10 in a Hispanic patient: a case report.
Vargas-González R, de la Torre-Mondragón L, Aparicio-Rodríguez JM, Paniagua-Morgan F, López-Hernández G, Garrido-Hernández MA, Nuñez-Barrera S
Pediatr Dev Pathol 2010 Nov-Dec;13(6):486-91. Epub 2010 Mar 24 doi: 10.2350/10-01-0791-CR.1. PMID: 20334546

Prognosis

Successful Treatment of Juvenile Polyposis of Infancy With Sirolimus.
Busoni VB, Orsi M, Lobos PA, D'Agostino D, Wagener M, De la Iglesia P, Fox VL
Pediatrics 2019 Aug;144(2) doi: 10.1542/peds.2018-2922. PMID: 31366686
Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: surgical approach.
Oliveira PH, Cunha C, Almeida S, Ferreira R, Maia S, Saraiva JM, Lopes MF
J Pediatr Surg 2013 Jan;48(1):e33-7. doi: 10.1016/j.jpedsurg.2012.09.067. PMID: 23331837
Juvenile polyposis of infancy associated with paracentric inversion and deletion of chromosome 10 in a Hispanic patient: a case report.
Vargas-González R, de la Torre-Mondragón L, Aparicio-Rodríguez JM, Paniagua-Morgan F, López-Hernández G, Garrido-Hernández MA, Nuñez-Barrera S
Pediatr Dev Pathol 2010 Nov-Dec;13(6):486-91. Epub 2010 Mar 24 doi: 10.2350/10-01-0791-CR.1. PMID: 20334546

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