Juvenile polyposis syndrome: A study of genotype, phenotype, and long-term outcome

Diseases of the Colon and Rectum

Volumn 55, Issue 10, 2012, Pages 1038-1043

  Latchford, Andrew R ^a,b   Neale, Kay ^b   Phillips, Robin K S ^b   Clark, Susan K ^b  

^a DERRIFORD HOSPITAL   (United Kingdom)

^b ST MARK S HOSPITAL   (United Kingdom)

Author keywords

Juvenile polyposis syndrome; Outcome; Phenotype; Surveillance

Indexed keywords

BONE MORPHOGENETIC PROTEIN RECEPTOR 1A; SMAD4 PROTEIN;

ADENOMATOUS POLYP; ADOLESCENT; ADULT; ANEURYSM SURGERY; APPENDECTOMY; ARTIFICIAL EMBOLISM; ATTENTION DEFICIT DISORDER; AUTISM; BARIUM ENEMA; BICUSPID AORTIC VALVE; CANCER DIAGNOSIS; CHILD; CHRONIC LIVER DISEASE; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; COLON POLYPOSIS; COLON RESECTION; COLONOSCOPY; COLORECTAL CANCER; DIARRHEA; DYSPLASIA; FEMALE; GASTRECTOMY; GENE MUTATION; GENOTYPE; HEART FAILURE; HEART VALVE REPLACEMENT; HISTOPATHOLOGY; HUMAN; HYDROCEPHALUS; HYPOVOLEMIC SHOCK; ILEORECTAL ANASTOMOSIS; ILIAC ARTERY ANEURYSM; INCIDENTAL FINDING; INTESTINE ENDOSCOPY; IRON DEFICIENCY ANEMIA; JUVENILE POLYP; JUVENILE POLYPOSIS SYNDROME; LAPAROTOMY; MACROCEPHALY; MALE; MALIGNANT TRANSFORMATION; MELENA; MITRAL VALVE PROLAPSE; PARTIAL GASTRECTOMY; PHENOTYPE; PHENOTYPIC VARIATION; POLYDACTYLY; POLYP; POLYPOSIS; PRESCHOOL CHILD; PROCTOCOLECTOMY; PULMONARY ARTERIOVENOUS FISTULA; PULMONARY VALVE STENOSIS; RECTUM CANCER; RECTUM HEMORRHAGE; RETROSPECTIVE STUDY; REVIEW; SCHOOL CHILD; SIGMOIDOSCOPY; SMALL INTESTINE OBSTRUCTION; SPLEEN ARTERY ANEURYSM; STOMACH CANCER; TELANGIECTASIA; THYROID DISEASE; TOTAL STOMACH RESECTION; VALVULAR HEART DISEASE;

ADOLESCENT; ADULT; AGED; BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE I; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; ENDOSCOPY, GASTROINTESTINAL; FEMALE; FOLLOW-UP STUDIES; GENOTYPE; HUMANS; INTESTINAL POLYPOSIS; MALE; MIDDLE AGED; MUTATION; NEOPLASTIC SYNDROMES, HEREDITARY; PHENOTYPE; REGISTRIES; RETROSPECTIVE STUDIES; SMAD4 PROTEIN; TREATMENT OUTCOME;

EID: 84868703296     PISSN: 00123706     EISSN: 15300358     Source Type: Journal    
DOI: 10.1097/DCR.0b013e31826278b3     Document Type: Review

References (15)

1. Burt RW, Bishop DT, Lynch HT, Rozen P, Winawer SJ. Risk and surveillance of individuals with heritable factors for colorectal cancer. WHO Collaborating Centre for the Prevention of Colorectal Cancer. Bull World Health Organ. 1990;68: 655-665.
2. Chevrel JP, Amouroux J, Gueraud JP. 3 cases of familial juvenile polyposis [in French]. Chirurgie. 1975;101:708-721.
3. Mccoll I, Busxey HJ, Veale AM, Morson BC. Juvenile polyposis coli. Proc R Soc Med. 1964;57:896-897.
4. Jass JR, Williams CB, Bussey HJ, Morson BC. Juvenile polyposis: a precancerous condition. Histopathology. 1988;13:619-630.
5. Desai DC, Murday V, Phillips RK, Neale KF, Milla P, Hodgson SV. A survey of phenotypic features in juvenile polyposis. J Med Genet. 1998;35:476-481. (Pubitemid 28252156)
6. Gallione CJ, Repetto GM, Legius E, et al. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet. 2004;363:852-859. (Pubitemid 38368834)
7. Aretz S, Stienen D, Uhlhaas S, et al. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet. 2007;44:702-709. (Pubitemid 350155457)
8. Delnatte C, Sanlaville D, Mougenot JF, et al. Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. Am J Hum Genet. 2006;78:1066-1074. (Pubitemid 43787698)
9. Brosens LA, van Hattem A, Hylind LM, et al. Risk of colorectal cancer in juvenile polyposis. Gut. 2007;56:965-967. (Pubitemid 46999081)
10. Sachatello CR, Hahn IS, Carrington CB. Juvenile gastrointestinal polyposis in a female infant: report of a case and review of the literature of a recently recognized syndrome. Surgery. 1974;75:107-114.
11. Hepner AD, Ahmadi-Kashani M, Movahed MR. The prevalence of mitral valve prolapse in patients undergoing echocardiography for clinical reason. Int J Cardiol. 2007;123:55-57. (Pubitemid 350116977)
12. Devereux RB, Jones EC, Roman MJ, et al. Prevalence and correlates of mitral valve prolapse in a population-based sample of American Indians: the Strong Heart Study. Am J Med. 2001;111:679-685. (Pubitemid 34017518)
13. Faughnan ME, Palda VA, Garcia-Tsao G, et al; HHT Foundation International - Guidelines Working Group. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet. 2011;48: 73-87.
14. Cairns SR, Scholefield JH, Steele RJ, et al British Society of Gastroenterology; Association of Coloproctology for Great Britain and Ireland. Guidelines for colorectal cancer screening and surveillance in moderate and high risk groups (update from 2002). Gut. 2010;59:666-689.
15. Reichelt U, Hopfer H, Roch N, Izbicki JR, Erbersdobler A. Juvenile polyposis coli: a facultative precancerosis with some similarities to ulcerative colitis? Pathol Res Pract. 2005;201:517-520. (Pubitemid 41131393)