Juvenile polyposis syndrome
Vijai D. Upadhyaya,A. N. Gangopadhyaya,Sandeep Sharma,S. C. Gopal,Dinesh K. Gupta,Vijayendra Kumar +5 more
TLDR
Single-stage total colectomy with rectal mucosectomy and endorectal ileoanal pull-through without covering ileostomy and pouch formation is a safe and definitive treatment for juvenile polyposis coli if the patient selection is appropriate.Abstract:
Aim: Report of a series of 12 cases of juvenile polyposis coli. Methods: The study period was from 1995 to 2005. All the patients were treated by total colectomy with rectal mucosectomy and endorectal ileoanal pullthrough with or without ileal pouch formation. Covering ileostomy was avoided in all the cases. Time taken for the surgery, postoperative complications and continence were documented. Results: The mean operating time was 4.2 h (range: 4-5 h). The mean duration of hospital stay was 16.3 days (range: 15-18 days). The most common postoperative complication was pouchitis and perianal excoriation. Initially, all the patients were passing stools at an interval of 2 h, and after 3 weeks, the frequency has reduced to 6-8 stools per day. In the follow-up after 3 months, the frequency was 3-5 per day with minimal soiling. Conclusions: Single-stage total colectomy with rectal mucosectomy and endorectal ileoanal pull-through without covering ileostomy and pouch formation is a safe and definitive treatment for juvenile polyposis coli if the patient selection is appropriate.read more
Citations
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Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer
Aung Ko Win,Mark A. Jenkins,James G. Dowty,Antonis C. Antoniou,Andy C. H. Lee,Graham G. Giles,Graham G. Giles,Daniel D. Buchanan,Mark Clendenning,Christophe Rosty,Dennis J. Ahnen,Stephen N. Thibodeau,Graham Casey,Steven Gallinger,Loc Le Marchand,Robert W. Haile,John D. Potter,John D. Potter,John D. Potter,Yingye Zheng,Yingye Zheng,Noralane M. Lindor,Polly A. Newcomb,Polly A. Newcomb,John L. Hopper,Robert J. MacInnis,Robert J. MacInnis +26 more
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Journal ArticleDOI
High proportion of large genomic deletions and a genotype–phenotype update in 80 unrelated families with juvenile polyposis syndrome
Stefan Aretz,Dietlinde Stienen,Siegfreid Uhlhaas,Manfred Stolte,Mark M Entius,Steffan Loff,Walter Back,Astrid Kaufmann,Klaus-Michael Keller,Stefan H Blaas,Reiner Siebert,Stefanie Vogt,Stefanie Spranger,Elke Holinski-Feder,Lone Sunde,Peter Propping,Waltraut Friedl +16 more
TL;DR: Screening for large deletions raised the mutation detection rate to 60% in the 65 patients with typical JPS and a strong genotype-phenotype correlation for gastric polyposis, gastric cancer, and HHT was identified, which should have implications for counselling and surveillance.
Journal ArticleDOI
BMP restricts stemness of intestinal Lgr5+ stem cells by directly suppressing their signature genes.
Zhen Qi,Yehua Li,Bing Zhao,Chi Xu,Yuan Liu,Haonan Li,Bingjie Zhang,Xinquan Wang,Xiao Yang,Wei Xie,Baojie Li,Jing-Dong J. Han,Ye-Guang Chen +12 more
TL;DR: It is demonstrated that epithelial BMP constrains the Lgr5+ stem cell self-renewal via Smad-mediated repression of stem cell signature genes to ensure proper homeostatic renewal of intestinal epithelium.
References
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Journal ArticleDOI
Juvenile polyposis--a precancerous condition.
TL;DR: It is suggested that the condition should be treated as seriously as familial adenomatous polyposis except that regular colonoscopic surveillance may obviate the need for prophylactic colectomy.
Journal ArticleDOI
The risk of gastrointestinal carcinoma in familial juvenile polyposis.
TL;DR: The risk of gastrointestinal malignancy in affected members of this JP kindred exceeds 50%.
Journal ArticleDOI
The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations
James R. Howe,Mohamed G. Sayed,A. F. Ahmed,John C. Ringold,J. Larsen-Haidle,A. Merg,Frank A. Mitros,Carlos A. Vaccaro,Gloria M. Petersen,Francis M. Giardiello,Susan T. Tinley,Lauri A. Aaltonen,Henry T. Lynch +12 more
TL;DR: The prevalence of germline MADH4 and BMPR1A mutations is approximately 20% for each gene, which means either additional genes predisposing to JP remain to be discovered, or alternate means of inactivation of the two known genes are responsible for these JP cases.
Journal ArticleDOI
High proportion of large genomic deletions and a genotype–phenotype update in 80 unrelated families with juvenile polyposis syndrome
Stefan Aretz,Dietlinde Stienen,Siegfreid Uhlhaas,Manfred Stolte,Mark M Entius,Steffan Loff,Walter Back,Astrid Kaufmann,Klaus-Michael Keller,Stefan H Blaas,Reiner Siebert,Stefanie Vogt,Stefanie Spranger,Elke Holinski-Feder,Lone Sunde,Peter Propping,Waltraut Friedl +16 more
TL;DR: Screening for large deletions raised the mutation detection rate to 60% in the 65 patients with typical JPS and a strong genotype-phenotype correlation for gastric polyposis, gastric cancer, and HHT was identified, which should have implications for counselling and surveillance.
Journal ArticleDOI
Colorectal neoplasia in juvenile polyposis or juvenile polyps.
Francis M. Giardiello,Stanley R. Hamilton,Scott E. Kern,G. J. A. Offerhaus,Pearl A Green,Paul Celano,Anne J. Krush,Susan V. Booker +7 more
TL;DR: It is suggested that patients with juvenile polyps who have three or more juvenilePolyps or a family history of juvenile Polyps should undergo surveillance for colorectal neoplasia.