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Juvenile polyposis syndrome(JPS)

MedGen UID:
87518
Concept ID:
C0345893
Neoplastic Process
Synonyms: JPS; Polyposis familial of entire gastrointestinal tract; Polyposis juvenile intestinal
SNOMED CT: Juvenile polyposis syndrome (9273005); Juvenile polyposis of intestine (9273005)
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.
 
Genes (locations): BMPR1A (10q23.2); SMAD4 (18q21.2)
 
Monarch Initiative: MONDO:0017380
OMIM®: 174900
Orphanet: ORPHA2929

Disease characteristics

Excerpted from the GeneReview: Juvenile Polyposis Syndrome
Juvenile polyposis syndrome (JPS) is characterized by predisposition to hamartomatous polyps in the gastrointestinal (GI) tract, specifically in the stomach, small intestine, colon, and rectum. The term "juvenile" refers to the type of polyp rather than to the age of onset of polyps. Most individuals with JPS have some polyps by age 20 years; some may have only four or five polyps over their lifetime, whereas others in the same family may have more than 100. If the polyps are left untreated, they may cause bleeding and anemia. Most juvenile polyps are benign; however, malignant transformation can occur. Risk for GI cancers ranges from 11% to 86%. Most of this increased risk is attributed to colon cancer, but cancers of the stomach, upper GI tract, and pancreas have also been reported. A combined syndrome of JPS and hereditary hemorrhagic telangiectasia (HHT) is present in most individuals with an SMAD4 pathogenic variant. [from GeneReviews]
Authors:
Joy Larsen Haidle  |  Suzanne P MacFarland  |  James R Howe   view full author information

Additional descriptions

From OMIM
Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005). It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (601728), the same gene that is mutant in Cowden syndrome-1 (158350). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.  http://www.omim.org/entry/174900
From MedlinePlus Genetics
Juvenile polyposis syndrome is a disorder characterized by multiple noncancerous (benign) growths called juvenile polyps. People with juvenile polyposis syndrome typically develop polyps before age 20; however, in the name of this condition "juvenile" refers to the characteristics of the tissues that make up the polyp, not the age of the affected individual. These growths occur in the gastrointestinal tract, typically in the large intestine (colon). The number of polyps varies from only a few to hundreds, even among affected members of the same family. Polyps may cause gastrointestinal bleeding, a shortage of red blood cells (anemia), abdominal pain, and diarrhea. Approximately 15 percent of people with juvenile polyposis syndrome have other abnormalities, such as a twisting of the intestines (intestinal malrotation), heart or brain abnormalities, an opening in the roof of the mouth (cleft palate), extra fingers or toes (polydactyly), and abnormalities of the genitalia or urinary tract.

Juvenile polyposis syndrome is diagnosed when a person has any one of the following: (1) more than five juvenile polyps of the colon or rectum; (2) juvenile polyps in other parts of the gastrointestinal tract; or (3) any number of juvenile polyps and one or more affected family members. Single juvenile polyps are relatively common in children and are not characteristic of juvenile polyposis syndrome.

Three types of juvenile polyposis syndrome have been described, based on the signs and symptoms of the disorder. Juvenile polyposis of infancy is characterized by polyps that occur throughout the gastrointestinal tract during infancy. Juvenile polyposis of infancy is the most severe form of the disorder and is associated with the poorest outcome. Children with this type may develop a condition called protein-losing enteropathy. This condition results in severe diarrhea, failure to gain weight and grow at the expected rate (failure to thrive), and general wasting and weight loss (cachexia). Another type called generalized juvenile polyposis is diagnosed when polyps develop throughout the gastrointestinal tract. In the third type, known as juvenile polyposis coli, affected individuals develop polyps only in their colon. People with generalized juvenile polyposis and juvenile polyposis coli typically develop polyps during childhood.

Most juvenile polyps are benign, but there is a chance that polyps can become cancerous (malignant). It is estimated that people with juvenile polyposis syndrome have a 10 to 50 percent risk of developing a cancer of the gastrointestinal tract. The most common type of cancer seen in people with juvenile polyposis syndrome is colorectal cancer.  https://medlineplus.gov/genetics/condition/juvenile-polyposis-syndrome

Clinical features

From HPO
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Clubbing
MedGen UID:
57692
Concept ID:
C0149651
Anatomical Abnormality
Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Colon cancer
MedGen UID:
2839
Concept ID:
C0007102
Neoplastic Process
A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Hematochezia
MedGen UID:
5481
Concept ID:
C0018932
Disease or Syndrome
The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.
Intussusception
MedGen UID:
43940
Concept ID:
C0021933
Disease or Syndrome
An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine.
Rectal prolapse
MedGen UID:
11151
Concept ID:
C0034888
Disease or Syndrome
Protrusion of the rectal mucous membrane through the anus.
Neoplasm of stomach
MedGen UID:
20958
Concept ID:
C0038356
Neoplastic Process
A tumor (abnormal growth of tissue) of the stomach.
Gastric polyposis
MedGen UID:
68629
Concept ID:
C0236048
Disease or Syndrome
A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps).
Duodenal adenocarcinoma
MedGen UID:
82985
Concept ID:
C0278804
Neoplastic Process
A malignant epithelial tumor with a glandular organization that originates in the duodenum.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
An abnormally decreased potassium concentration in the blood.
Hypoalbuminemia
MedGen UID:
68694
Concept ID:
C0239981
Finding
Reduction in the concentration of albumin in the blood.

Professional guidelines

PubMed

Gorji L, Albrecht P
World J Gastroenterol 2023 Feb 28;29(8):1304-1314. doi: 10.3748/wjg.v29.i8.1304. PMID: 36925460Free PMC Article
Rebuzzi F, Ulivi P, Tedaldi G
Int J Mol Sci 2023 Jan 21;24(3) doi: 10.3390/ijms24032137. PMID: 36768460Free 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

Suggested Reading

Recent clinical studies

Etiology

Rebuzzi F, Ulivi P, Tedaldi G
Int J Mol Sci 2023 Jan 21;24(3) doi: 10.3390/ijms24032137. PMID: 36768460Free PMC Article
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
Katabathina VS, Menias CO, Khanna L, Murphy L, Dasyam AK, Lubner MG, Prasad SR
Radiographics 2019 Sep-Oct;39(5):1280-1301. Epub 2019 Aug 2 doi: 10.1148/rg.2019180185. PMID: 31373866
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

Diagnosis

Carneiro F
Best Pract Res Clin Gastroenterol 2022 Jun-Aug;58-59:101800. Epub 2022 May 4 doi: 10.1016/j.bpg.2022.101800. PMID: 35988963
Dal Buono A, Gaiani F, Poliani L, Laghi L
Best Pract Res Clin Gastroenterol 2022 Jun-Aug;58-59:101799. Epub 2022 Apr 4 doi: 10.1016/j.bpg.2022.101799. PMID: 35988962
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

Therapy

Hao L, Bian W, Qing Z, Ma T, Li H, Xu P, Wen P
Front Cell Infect Microbiol 2023;13:1295962. Epub 2024 Jan 11 doi: 10.3389/fcimb.2023.1295962. PMID: 38274732Free PMC Article
Shichman I, Ward SA, Lu L, Garceau S, Piuzzi NS, Seyler TM, Schwarzkopf R
J Arthroplasty 2023 Oct;38(10):2177-2182. Epub 2023 May 12 doi: 10.1016/j.arth.2023.04.063. PMID: 37179023
Kager LM, Meijer SL, Bastiaansen BA
Gastroenterology 2014 Nov;147(5):974-6. Epub 2014 Sep 20 doi: 10.1053/j.gastro.2014.06.003. PMID: 25252015
Sweetser S, Ahlquist DA, Osborn NK, Sanderson SO, Smyrk TC, Chari ST, Boardman LA
Dig Dis Sci 2012 Feb;57(2):496-502. Epub 2011 Sep 1 doi: 10.1007/s10620-011-1874-9. PMID: 21881972
Pollock J, Welsh JS
Am J Clin Oncol 2011 Jun;34(3):332-6. doi: 10.1097/COC.0b013e3181dea432. PMID: 20859198

Prognosis

Gorji L, Albrecht P
World J Gastroenterol 2023 Feb 28;29(8):1304-1314. doi: 10.3748/wjg.v29.i8.1304. PMID: 36925460Free PMC Article
Katabathina VS, Menias CO, Khanna L, Murphy L, Dasyam AK, Lubner MG, Prasad SR
Radiographics 2019 Sep-Oct;39(5):1280-1301. Epub 2019 Aug 2 doi: 10.1148/rg.2019180185. PMID: 31373866
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
Eng C
Am J Med Genet A 2003 Nov 1;122A(4):315-22. doi: 10.1002/ajmg.a.20477. PMID: 14518069

Clinical prediction guides

Hryhorowicz S, Kaczmarek-Ryś M, Lis-Tanaś E, Porowski J, Szuman M, Grot N, Kryszczyńska A, Paszkowski J, Banasiewicz T, Pławski A
Genes (Basel) 2022 Dec 10;13(12) doi: 10.3390/genes13122326. PMID: 36553592Free PMC Article
Carneiro F
Best Pract Res Clin Gastroenterol 2022 Jun-Aug;58-59:101800. Epub 2022 May 4 doi: 10.1016/j.bpg.2022.101800. PMID: 35988963
Katabathina VS, Menias CO, Khanna L, Murphy L, Dasyam AK, Lubner MG, Prasad SR
Radiographics 2019 Sep-Oct;39(5):1280-1301. Epub 2019 Aug 2 doi: 10.1148/rg.2019180185. PMID: 31373866
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
Eng C
Am J Med Genet A 2003 Nov 1;122A(4):315-22. doi: 10.1002/ajmg.a.20477. PMID: 14518069

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
Jackson SB, Villano NP, Benhammou JN, Lewis M, Pisegna JR, Padua D
Dig Dis Sci 2017 Oct;62(10):2623-2630. Epub 2017 Aug 23 doi: 10.1007/s10620-017-4719-3. PMID: 28836046Free PMC Article

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