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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
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
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

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 a hundred. 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 (HHT) (termed JPS/HHT) is present in most individuals with an SMAD4 pathogenic variant. [from GeneReviews]
Authors:
Joy Larsen Haidle  |  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 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

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:
107442
Concept ID:
C0541912
Neoplastic Process
A malignant epithelial tumor with a glandular organization that originates in the duodenum.
Hematochezia
MedGen UID:
5481
Concept ID:
C0018932
Finding
The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
If you have anemia, your blood does not carry enough oxygen to the rest of your body. The most common cause of anemia is not having enough iron. Your body needs iron to make hemoglobin. Hemoglobin is an iron-rich protein that gives the red color to blood. It carries oxygen from the lungs to the rest of the body. Anemia has three main causes: blood loss, lack of red blood cell production, and high rates of red blood cell destruction. Conditions that may lead to anemia include. -Heavy periods. -Pregnancy. -Ulcers. -Colon polyps or colon cancer. -Inherited disorders. -A diet that does not have enough iron, folic acid or vitamin B12. -Blood disorders such as sickle cell anemia and thalassemia, or cancer. -Aplastic anemia, a condition that can be inherited or acquired. -G6PD deficiency, a metabolic disorder. Anemia can make you feel tired, cold, dizzy, and irritable. You may be short of breath or have a headache. Your doctor will diagnose anemia with a physical exam and blood tests. Treatment depends on the kind of anemia you have. NIH: National Heart, Lung, and Blood Institute.
Hematochezia
MedGen UID:
5481
Concept ID:
C0018932
Finding
The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.
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.
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
Your abdomen extends from below your chest to your groin. Some people call it the stomach, but your abdomen contains many other important organs. Pain in the abdomen can come from any one of them. The pain may start somewhere else, such as your chest. Severe pain doesn't always mean a serious problem. Nor does mild pain mean a problem is not serious. . Call your healthcare provider if mild pain lasts a week or more or if you have pain with other symptoms. Get medical help immediately if. - You have abdominal pain that is sudden and sharp. -You also have pain in your chest, neck or shoulder . - You're vomiting blood or have blood in your stool . - Your abdomen is stiff, hard and tender to touch . -You can't move your bowels, especially if you're also vomiting .
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
Your abdomen extends from below your chest to your groin. Some people call it the stomach, but your abdomen contains many other important organs. Pain in the abdomen can come from any one of them. The pain may start somewhere else, such as your chest. Severe pain doesn't always mean a serious problem. Nor does mild pain mean a problem is not serious. . Call your healthcare provider if mild pain lasts a week or more or if you have pain with other symptoms. Get medical help immediately if. - You have abdominal pain that is sudden and sharp. -You also have pain in your chest, neck or shoulder . - You're vomiting blood or have blood in your stool . - Your abdomen is stiff, hard and tender to touch . -You can't move your bowels, especially if you're also vomiting .
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
Diarrhea means that you have loose, watery stools more than three times in one day. You may also have cramps, bloating, nausea and an urgent need to have a bowel movement. . Causes of diarrhea include bacteria, viruses or parasites, certain medicines, food intolerances and diseases that affect the stomach, small intestine or colon. In many cases, no cause can be found. . Although usually not harmful, diarrhea can become dangerous or signal a more serious problem. You should talk to your doctor if you have a strong pain in your abdomen or rectum, a fever, blood in your stools, severe diarrhea for more than three days or symptoms of dehydration. If your child has diarrhea, do not hesitate to call the doctor for advice. Diarrhea can be dangerous in children. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Hematochezia
MedGen UID:
5481
Concept ID:
C0018932
Finding
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
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:
107442
Concept ID:
C0541912
Neoplastic Process
A malignant epithelial tumor with a glandular organization that originates in the duodenum.
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
An abnormally decreased potassium concentration in the blood.
Hypoalbuminemia
MedGen UID:
68694
Concept ID:
C0239981
Finding
Reduced serum albumin concentration
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.

Term Hierarchy

Follow this link to review classifications for Juvenile polyposis syndrome in Orphanet.

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. [Epub ahead of print] 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. [Epub ahead of print] 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

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. [Epub ahead of print] PMID: 25846706Free PMC Article
Lin HC, Fiorino KN, Blick C, Anupindi SA
Clin Imaging 2015 Mar-Apr;39(2):321-4. doi: 10.1016/j.clinimag.2013.05.013. PMID: 25432397
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. [Epub ahead of print] 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. [Epub ahead of print] 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

Diagnosis

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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 25931195
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. [Epub ahead of print] PMID: 25846706Free PMC Article
Lin HC, Fiorino KN, Blick C, Anupindi SA
Clin Imaging 2015 Mar-Apr;39(2):321-4. doi: 10.1016/j.clinimag.2013.05.013. PMID: 25432397
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. [Epub ahead of print] PMID: 25389115

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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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

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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 22005895
Mastoraki A, Papanikolaou IS, Triantafyllou K, Karamitopoulou E, Sakorafas G, Safioleas M
Am Surg 2011 Dec;77(12):E301-3. PMID: 22273206

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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 22826269
Oncel M, Church JM, Remzi FH, Fazio VW
Dis Colon Rectum 2005 Jan;48(1):49-55; discussion 55-6. PMID: 15690657

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. [Epub ahead of print] 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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