Colonic polyposis syndromes—An experience from a tertiary centre in South India
详细信息    查看全文
  • 作者:Sreejesh Sreedharanunni ; Roopa Paulose ; Annie Jojo…
  • 关键词:Attenuated familial adenomatous polyposis ; Cronkhite ; Canada syndrome ; Familial adenomatous polyposis ; Hyperplastic polyposis ; Juvenile polyposis syndrome ; Peutz ; Jeghers syndrome
  • 刊名:Indian Journal of Gastroenterology
  • 出版年:2015
  • 出版时间:May 2015
  • 年:2015
  • 卷:34
  • 期:3
  • 页码:233-239
  • 全文大小:1,217 KB
  • 参考文献:1.Patel SG, Ahnen DJ. Familial colon cancer syndromes: an update of a rapidly evolving field. Curr Gastroenterol Rep. 2012;14:428-8.PubMed Central PubMed View Article
    2.Ferlay J, Shin HR, Bray F, Forman D, Mathers C, Parkin DM. Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008. Int J Cancer. 2010;127:2893-17.PubMed View Article
    3.Jasperson KW. Genetic testing by cancer site: colon (polyposis syndromes). Cancer J. 2012;18:328-3.PubMed View Article
    4.Kastrinos F, Syngal S. Inherited colorectal cancer syndromes. Cancer J. 2011;17:405-5.PubMed Central PubMed View Article
    5.Hamilton SR, Bosman FT, Bofetta P, IlyasM, Morreau H. (eds). Carcinoma of Colon and Rectum. WHO Classification of Tumours of the Digestive System, Lyon; IARC, 2010.
    6.Rosty C, Bennington M. Serrated colorectal polyps and polyposis. Diagn Histopathol. 2014;20:30-.View Article
    7.Rajesh G, Gajendra O, Siyad I, Geetha M, Bohari H, Narayanan VA. Cronkhite Canada syndrome. J Assoc Physicians India. 2008;56:606.PubMed
    8.Cairns SR, Scholefield JH, Steele RJ, et al. Guidelines for colorectal cancer screening and surveillance in moderate and high risk groups (update from 2002). Gut. 2010;59:666-9.PubMed View Article
    9.Sturt NJ, Clark SK. Current ideas in desmoid tumours. Fam Cancer. 2006;5:275-5.PubMed View Article
    10.Half E, Bercovich D, Rozen P. Familial adenomatous polyposis. Orphanet J Rare Dis. 2009;4:22.PubMed Central PubMed View Article
    11.Jenkins MA, Croitoru ME, Monga N, et al. Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study. Cancer Epidemiol Biomarkers Prev. 2006;15:312-.PubMed View Article
    12.Farrington SM, Tenesa A, Barnetson R, et al. Germline susceptibility to colorectal cancer due to base-excision repair gene defects. Am J Hum Genet. 2005;77:112-.PubMed Central PubMed View Article
    13.Lubbe SJ, Di Bernardo MC, Chandler IP, Houlston RS. Clinical implications of the colorectal cancer risk associated with MUTYH mutation. J Clin Oncol. 2009;27:3975-0.PubMed View Article
    14.Theodoratou E, Campbell H, Tenesa A, et al. A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants. Br J Cancer. 2010;103:1875-4.PubMed Central PubMed View Article
    15.Boparai KS, Dekker E, Van Eeden S, et al. Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis. Gastroenterology. 2008;135:2014-.PubMed View Article
    16.Vogt S, Jones N, Christian D, et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology. 2009;137:1976-5 e1-10.
    17.Russell AM, Zhang J, Luz J, et al. Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients. Int J Cancer. 2006;118:1937-0.PubMed View Article
    18.Matsumoto T, Iida M, Kobori Y, et al. Serrated adenoma in familial adenomatous polyposis: relation to germline APC gene mutation. Gut. 2002;50:402-.PubMed Central PubMed View Article
    19.Calva D, Howe JR. Hamartomatous polyposis syndromes. Surg Clin N Am. 2008;88:779-17.PubMed Central PubMed View Article
    20.Westerman AM, Wilson JH. Peutz-Jeghers syndrome: risks of a hereditary condition. Scand J Gastroenterol. 1999;Suppl 230:64-0.View Article
    21.Utsunomiya J, Gocho H, Miyanaga T, Hamaguchi E, Kashimure A. Peutz-Jeghers syndrome: its natural course and management. Johns Hopkins Med J. 1975;136:71-2.PubMed
    22.de Leng WW, Westerman AM, Weterman MA, et al. Nasal polyposis in Peutz-Jeghers syndrome: a distinct histopathological and molecular genetic entity. J Clin Pathol. 2007;60:392-.PubMed Central PubMed View Article
    23.Kopacova M, Tacheci I, Rejchrt S, Bures J. Peutz-Jeghers syndrome: diagnostic and therapeutic approach. World J Gastroenterol. 2009;15:5397-08.PubMed Central PubMed View Article
    24.Hearle N, Schumacher V, Menko FH, et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res. 2006;12:3209-5.PubMed View Article
    25.Calva-Cerqueira D, Chinnathambi S, Pechman B, Bair J, Larsen-Haidle J, Howe JR. The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. Clin Genet. 2009;75:79-5.PubMed View Article
    26.Latchford AR, Neale K, Phillips RK, Clark SK. Juvenile polyposis syndrome: a study of genotype, phenotype, and long-term outcome. Dis Colon Rectum. 2012;55:1038-3.PubMed View Article
    27.Brosens LA, Langeveld D, van Hattem WA, Giardiello FM, Offerhaus GJ. Juvenile polyposis syndrome. World J Gastroenterol. 2011;17:4839-4.PubMed Central PubMed View Article
    28.Brosens LA, van Hattem A, Hylind LM, et al. Risk of colorectal cancer in juvenile polyposis. Gut. 2007;56:965-.PubMed Central PubMed View Article
    29.Seshadri D, Karagiorgos N, Hyser MJ. A case of Cronkhite-Canada syndrome and a review of gastrointestinal polyposis syndromes. Gastroenterol Hepatol (NY). 2012;8:197
  • 作者单位:Sreejesh Sreedharanunni (1)
    Roopa Paulose (1)
    Annie Jojo (1)
    Puneet Dhar (2)
    P. Gangadharan (3)

    1. Department of Pathology, Amrita Institute of Medical Sciences, Ponekkara, Kochi, 682 041, India
    2. Department of Gastrointestinal Surgery, Amrita Institute of Medical Sciences, Ponekkara, Kochi, 682 041, India
    3. Department of Cancer Registry, Amrita Institute of Medical Sciences, Ponekkara, Kochi, 682 041, India
  • 刊物主题:Gastroenterology; Hepatology;
  • 出版者:Springer India
  • ISSN:0975-0711
文摘
Background Several polyposis syndromes of the gastrointestinal tract have been recognized which carry increased risk for cancer and have a genetic predisposition. There is a paucity of literature regarding the occurrence and the burden of colonic polyposis syndromes in the Indian subcontinent. This study attempts to highlight this hitherto unaddressed burden and the associated increased risk for inherited colonic cancer in this geographical location. Methods A retrospective study of various colonic polyposis syndromes encountered at a tertiary centre in South India over a period of 8?years (2005 to 2012) was performed. The diagnosis in each case was made histologically with clinicopathological correlation. Results Fifty cases were identified as belonging to a colonic polyposis syndrome, during the study period. There were 27 males and 23 females with a median age of 36.5?years (range 19?months to 78?years). The commonest syndrome was familial adenomatous polyposis (n--7; 54?%) followed by Peutz-Jeghers syndrome (n--1), attenuated familial adenomatous polyposis (n--), juvenile polyposis syndrome (n--), hyperplasic polyposis syndrome (n--) and Cronkhite-Canada syndrome (n--). Colonic malignancy was documented at first presentation in 22 patients (44?%). Conclusions Our study highlights the various colonic polyposis syndromes encountered in a tertiary care institution in Southern India.

© 2004-2018 中国地质图书馆版权所有 京ICP备05064691号 京公网安备11010802017129号

地址:北京市海淀区学院路29号 邮编:100083

电话:办公室:(+86 10)66554848;文献借阅、咨询服务、科技查新:66554700