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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
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, 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.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Juvenile polyposis syndrome (9273005); Juvenile polyposis of intestine (9273005)
 
Genes (locations): BMPR1A (10q23.2); SMAD4 (18q21.2)
OMIM®: 174900
Orphanet: ORPHA329971

Definition

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 in families with JPS ranges from 9% to 50%. 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 (JPS/HHT) is present in most individuals with an SMAD4 pathogenic variant. [from GTR]

Additional descriptions

From GeneReviews
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 in families with JPS ranges from 9% to 50%. 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 (JPS/HHT) is present in most individuals with an SMAD4 pathogenic variant.  https://www.ncbi.nlm.nih.gov/books/NBK1469
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 disease (158350) and in Bannayan-Zonana syndrome (153480). 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 GHR
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://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome

Clinical features

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.
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.
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.
Clubbing
MedGen UID:
57692
Concept ID:
C0149651
Sign or Symptom
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.
Hematochezia
MedGen UID:
5481
Concept ID:
C0018932
Finding
The passage of bright red blood from the rectum. The blood may or may not be mixed with formed stool in the form of blood, blood clots, bloody stool or diarrhea.
Failure to thrive
MedGen UID:
115900
Concept ID:
C0231246
Finding
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
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.
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.
Hematochezia
MedGen UID:
5481
Concept ID:
C0018932
Finding
The passage of bright red blood from the rectum. The blood may or may not be mixed with formed stool in the form of blood, blood clots, bloody stool or diarrhea.
Intussusception
MedGen UID:
43940
Concept ID:
C0021933
Disease or Syndrome
A form of intestinal obstruction caused by the PROLAPSE of a part of the intestine into the adjoining intestinal lumen. There are four types: colic, involving segments of the LARGE INTESTINE; enteric, involving only the SMALL INTESTINE; ileocecal, in which the ILEOCECAL VALVE prolapses into the CECUM, drawing the ILEUM along with it; and ileocolic, in which the ileum prolapses through the ileocecal valve into the COLON.
Rectal prolapse
MedGen UID:
11151
Concept ID:
C0034888
Disease or Syndrome
Protrusion of the rectal mucous membrane through the anus.
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.
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.
Hematochezia
MedGen UID:
5481
Concept ID:
C0018932
Finding
The passage of bright red blood from the rectum. The blood may or may not be mixed with formed stool in the form of blood, blood clots, bloody stool or diarrhea.
Anemia
MedGen UID:
56401
Concept ID:
C0162119
Finding
A laboratory test result demonstrating decreased levels of hemoglobin in a biological specimen.
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
Abnormally low potassium concentration in the blood. It may result from potassium loss by renal secretion or by the gastrointestinal route, as by vomiting or diarrhea. It may be manifested clinically by neuromuscular disorders ranging from weakness to paralysis, by electrocardiographic abnormalities (depression of the T wave and elevation of the U wave), by renal disease, and by gastrointestinal disorders. (Dorland, 27th ed)
Hypoalbuminemia
MedGen UID:
68694
Concept ID:
C0239981
Finding
A condition in which albumin level in blood (SERUM ALBUMIN) is below the normal range. Hypoalbuminemia may be due to decreased hepatic albumin synthesis, increased albumin catabolism, altered albumin distribution, or albumin loss through the urine (ALBUMINURIA).
Clubbing
MedGen UID:
57692
Concept ID:
C0149651
Sign or Symptom
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.

Professional guidelines

PubMed

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
Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL; Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee.
Genet Med 2015 Jan;17(1):70-87. Epub 2014 Nov 13 doi: 10.1038/gim.2014.147. PMID: 25394175
Trepanier A, Ahrens M, McKinnon W, Peters J, Stopfer J, Grumet SC, Manley S, Culver JO, Acton R, Larsen-Haidle J, Correia LA, Bennett R, Pettersen B, Ferlita TD, Costalas JW, Hunt K, Donlon S, Skrzynia C, Farrell C, Callif-Daley F, Vockley CW; National Society of Genetic Counselors.
J Genet Couns 2004 Apr;13(2):83-114. doi: 10.1023/B:JOGC.0000018821.48330.77. PMID: 15604628

External

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Recent clinical studies

Etiology

Alimi A, Weeth-Feinstein LA, Stettner A, Caldera F, Weiss JM
Am J Med Genet A 2015 Jun;167(6):1305-8. Epub 2015 Apr 5 doi: 10.1002/ajmg.a.36876. PMID: 25846706Free PMC Article
Aytac E, Sulu B, Heald B, O'Malley M, LaGuardia L, Remzi FH, Kalady MF, Burke CA, Church JM
Br J Surg 2015 Jan;102(1):114-8. Epub 2014 Nov 12 doi: 10.1002/bjs.9693. PMID: 25389115
Yamaguchi J, Nagayama S, Chino A, Sakata A, Yamamoto N, Sato Y, Ashihara Y, Kita M, Nomura S, Ishikawa Y, Igarashi M, Ueno M, Arai M
Jpn J Clin Oncol 2014 Oct;44(10):1004-8. Epub 2014 Aug 16 doi: 10.1093/jjco/hyu111. PMID: 25129392
Latchford AR, Neale K, Phillips RK, Clark SK
Dis Colon Rectum 2012 Oct;55(10):1038-43. doi: 10.1097/DCR.0b013e31826278b3. PMID: 22965402
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

Diagnosis

Hsiao YH, Wei CH, Chang SW, Chang L, Fu YW, Lee HC, Liu HL, Yeung CY
Medicine (Baltimore) 2016 Sep;95(37):e4550. doi: 10.1097/MD.0000000000004550. PMID: 27631205Free PMC Article
Aytac E, Sulu B, Heald B, O'Malley M, LaGuardia L, Remzi FH, Kalady MF, Burke CA, Church JM
Br J Surg 2015 Jan;102(1):114-8. Epub 2014 Nov 12 doi: 10.1002/bjs.9693. PMID: 25389115
Latchford AR, Neale K, Phillips RK, Clark SK
Dis Colon Rectum 2012 Oct;55(10):1038-43. doi: 10.1097/DCR.0b013e31826278b3. PMID: 22965402
Piepoli A, Mazzoccoli G, Panza A, Tirino V, Biscaglia G, Gentile A, Valvano MR, Clemente C, Desiderio V, Papaccio G, Bisceglia M, Andriulli A
Dig Liver Dis 2012 Nov;44(11):952-6. Epub 2012 Jun 27 doi: 10.1016/j.dld.2012.05.019. PMID: 22748914
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

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
Zhang Y, Chen X, Qiao M, Zhang BQ, Wang N, Zhang Z, Liao Z, Zeng L, Deng Y, Deng F, Zhang J, Yin L, Liu W, Zhang Q, Ya Z, Ye J, Wang Z, Zhou L, Luu HH, Haydon RC, He TC, Zhang H
Oncol Rep 2014 Sep;32(3):1013-20. Epub 2014 Jul 3 doi: 10.3892/or.2014.3308. PMID: 24993644Free PMC Article
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
Chun CL, Eisenstat S, Dormady S, Lombard C, Triadafilopoulos G
Dig Dis Sci 2011 Jul;56(7):1944-8. Epub 2011 Jan 26 doi: 10.1007/s10620-011-1579-0. PMID: 21267778
Mangiantini F, Lorusso M, Pozzi E, Bronzini F, Brondello C, Salvestrini C, Lionetti P
J Pediatr Gastroenterol Nutr 2009 May;48(5):636-8. doi: 10.1097/MPG.0b013e31818080ab. PMID: 19412013

Prognosis

Hsiao YH, Wei CH, Chang SW, Chang L, Fu YW, Lee HC, Liu HL, Yeung CY
Medicine (Baltimore) 2016 Sep;95(37):e4550. doi: 10.1097/MD.0000000000004550. PMID: 27631205Free PMC Article
Shaco-Levy R, Jasperson KW, Martin K, Samadder NJ, Burt RW, Ying J, Bronner MP
Hum Pathol 2016 Mar;49:39-48. Epub 2015 Oct 31 doi: 10.1016/j.humpath.2015.10.002. PMID: 26826408
Latchford AR, Neale K, Phillips RK, Clark SK
Dis Colon Rectum 2012 Oct;55(10):1038-43. doi: 10.1097/DCR.0b013e31826278b3. PMID: 22965402
Stadler ZK, Salo-Mullen E, Zhang L, Shia J, Bacares R, Power DG, Weiser M, Coit D, Robson ME, Offit K, Schattner M
J Clin Oncol 2012 Sep 1;30(25):e229-32. Epub 2012 Jul 23 doi: 10.1200/JCO.2012.41.7949. PMID: 22826269
Wong-Chong N, Kidanewold WH, Kirsch R, May GR, McCart JA
J Gastrointest Surg 2012 Mar;16(3):669-72. Epub 2011 Oct 18 doi: 10.1007/s11605-011-1714-4. PMID: 22005895

Clinical prediction guides

Shaco-Levy R, Jasperson KW, Martin K, Samadder NJ, Burt RW, Ying J, Bronner MP
Hum Pathol 2016 Mar;49:39-48. Epub 2015 Oct 31 doi: 10.1016/j.humpath.2015.10.002. PMID: 26826408
Heald B, Rigelsky C, Moran R, LaGuardia L, O'Malley M, Burke CA, Zahka K
Am J Med Genet A 2015 Aug;167A(8):1758-62. Epub 2015 Apr 30 doi: 10.1002/ajmg.a.37093. PMID: 25931195
Latchford AR, Neale K, Phillips RK, Clark SK
Dis Colon Rectum 2012 Oct;55(10):1038-43. doi: 10.1097/DCR.0b013e31826278b3. PMID: 22965402
Stadler ZK, Salo-Mullen E, Zhang L, Shia J, Bacares R, Power DG, Weiser M, Coit D, Robson ME, Offit K, Schattner M
J Clin Oncol 2012 Sep 1;30(25):e229-32. Epub 2012 Jul 23 doi: 10.1200/JCO.2012.41.7949. PMID: 22826269
Kurland JE, Beck SE, Solomon CJ, Brann OS, Carethers JM, Huang SC
J Pediatr Gastroenterol Nutr 2007 Mar;44(3):318-25. doi: 10.1097/MPG.0b013e31802e98e5. PMID: 17325551

Recent systematic reviews

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
Aretz S
Dtsch Arztebl Int 2010 Mar;107(10):163-73. Epub 2010 Mar 12 doi: 10.3238/arztebl.2010.0163. PMID: 20358032Free PMC Article

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