intestinal polyposis


Summary: The growth of INTESTINAL POLYPS. Growth processes include neoplastic (ADENOMA and CARCINOMA) and non-neoplastic (hyperplastic, mucosal, inflammatory, and other polyps).

Top Publications

  1. Yashiro M, Kobayashi H, Kubo N, Nishiguchi Y, Wakasa K, Hirakawa K. Cronkhite-Canada syndrome containing colon cancer and serrated adenoma lesions. Digestion. 2004;69:57-62 pubmed
    ..Thus, genetic alterations between the serrated adenoma and the colorectal cancer was correlated in this case. These findings suggested the possibility of a serrated adenoma-carcinoma sequence in this case of Cronkhite-Canada syndrome. ..
  2. Latchford A, Neale K, Phillips R, Clark S. Juvenile polyposis syndrome: a study of genotype, phenotype, and long-term outcome. Dis Colon Rectum. 2012;55:1038-43 pubmed publisher
    ..Extraintestinal features are common. Gastrointestinal surveillance is safe. Most colonic polyps are right sided, and detecting dysplasia is uncommon. Carpeting polyps are of particular concern. ..
  3. Calva Cerqueira D, Chinnathambi S, Pechman B, Bair J, Larsen Haidle J, Howe J. The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. Clin Genet. 2009;75:79-85 pubmed publisher
    ..Large deletions are less frequent in JPS patients, but represent other heritable causes of JPS, which should be screened for in pre-symptomatic genetic testing. ..
  4. Yasuda T, Ueda T, Matsumoto I, Shirasaka D, Nakajima T, Sawa H, et al. Cronkhite-Canada syndrome presenting as recurrent severe acute pancreatitis. Gastrointest Endosc. 2008;67:570-2 pubmed publisher
  5. Carvajal Carmona L, Howarth K, Lockett M, Polanco Echeverry G, Volikos E, Gorman M, et al. Molecular classification and genetic pathways in hyperplastic polyposis syndrome. J Pathol. 2007;212:378-85 pubmed
    ..We propose a specific model which would have diagnosed five more of our cases as HPPS compared with the WHO clinical criteria. ..
  6. Aretz S, Stienen D, Uhlhaas S, Stolte M, Entius M, Loff 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;44:702-9 pubmed
    ..In patients with juvenile polyposis syndrome (JPS) the frequency of large genomic deletions in the SMAD4 and BMPR1A genes was unknown...
  7. Cheon E, Khazaie K, Khan M, Strouch M, Krantz S, Phillips J, et al. Mast cell 5-lipoxygenase activity promotes intestinal polyposis in APCDelta468 mice. Cancer Res. 2011;71:1627-36 pubmed publisher
    ..Together, our results establish a pro-tumorigenic role of hematopoietic 5LO in the immune microenvironment and suggest 5LO inhibition as an avenue for future investigation in treatment of colorectal polyposis and cancer. ..
  8. Calva Cerqueira D, Dahdaleh F, Woodfield G, Chinnathambi S, Nagy P, Larsen Haidle J, et al. Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis. Hum Mol Genet. 2010;19:4654-62 pubmed publisher
    ..We conclude that we have identified the promoter for BMPR1A, in which mutations may be responsible for as many as 10% of JP cases with unknown mutations. ..
  9. Belton A, Gabrovsky A, Bae Y, Reeves R, Iacobuzio Donahue C, Huso D, et al. HMGA1 induces intestinal polyposis in transgenic mice and drives tumor progression and stem cell properties in colon cancer cells. PLoS ONE. 2012;7:e30034 pubmed publisher
    ..We discovered that HMGA1 drives proliferative changes, aberrant crypt formation, and intestinal polyposis in transgenic mice...

More Information


  1. Postgate A, Will O, Fraser C, Fitzpatrick A, Phillips R, Clark S. Capsule endoscopy for the small bowel in juvenile polyposis syndrome: a case series. Endoscopy. 2009;41:1001-4 pubmed publisher
    ..Patients in whom polyps are confined to the colon are unlikely to require ongoing small-bowel review. ..
  2. Kambara T, Simms L, Whitehall V, Spring K, Wynter C, Walsh M, et al. BRAF mutation is associated with DNA methylation in serrated polyps and cancers of the colorectum. Gut. 2004;53:1137-44 pubmed
    ..Sporadic MSI-H cancers may originate in SSA and not adenomas, and BRAF mutation and DNA methylation are early events in this "serrated" pathway. ..
  3. Tseng K, Sheu B, Lee J, Tsai H, Chiu N, Dai Y. Application of technetium-99m-labeled human serum albumin scan to assist surgical treatment of protein-losing enteropathy in Cronkhite-Canada syndrome: report of a case. Dis Colon Rectum. 2005;48:870-3 pubmed
    ..Based on our finding, Technetium-99m-labeled human serum albumin scintigraphy is helpful to localize the protein-losing origins and surgery is an effective treatment for Cronkhite-Canada syndrome with protein-losing enteropathy. ..
  4. Liu H, Gao Z, Cui S, Wang Y, Li B, Lou H, et al. Chemoprevention of intestinal adenomatous polyposis by acetyl-11-keto-beta-boswellic acid in APC(Min/+) mice. Int J Cancer. 2013;132:2667-81 pubmed publisher
    ..Our findings suggest that AKBA could be a promising regimen in chemoprevention against intestinal tumorigenesis. ..
  5. Song L, Jhun B, Park J, Kim D, Chang D, Kim Y, et al. [A case of cap polyposis complicated with idiopathic retroperitoneal fibrosis]. Korean J Gastroenterol. 2011;58:275-9 pubmed
    ..Surgical approaches for the treatment of cap polyposis should be carefully considered before treatment. ..
  6. Mine S, Tanaka Y. [One case of Cronkhite-Canada syndrome, in which the course from onset to spontaneous curing could be followed]. J UOEH. 2004;26:245-51 pubmed
    ..Our results suggest that ectodermal changes and lesions of the digestive tract in CCS appear and disappear in a short time. ..
  7. Chatti Dey S, Bacha L, Saiji E, Zidi Y, Ben Brahim E, Ben Othman M, et al. [Digestive polyposis. Retrospective study of 20 cases]. Tunis Med. 2007;85:563-8 pubmed
    ..Peutz-Jeghers syndrome consists in hamartomatous polyps associated to a characteristic mucosal pigmentation. The patients are usually young adults and have an increased incidence of cancer in extradigestive sites. ..
  8. Ho V, Banney L, Falhammar H. Hyperpigmentation, nail dystrophy and alopecia with generalised intestinal polyposis: Cronkhite-Canada syndrome. Australas J Dermatol. 2008;49:223-5 pubmed publisher
    ..Investigation of the diarrhoea showed a protein-losing enteropathy with generalized intestinal polyposis and non-specific histology. A diagnosis of Cronkhite-Canada syndrome was made...
  9. Andrabi S, Bekheirnia M, Robbins Furman P, Lewis R, Prior T, Potocki L. SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction. Am J Med Genet A. 2011;155A:1165-9 pubmed publisher
    ..We emphasize the importance of comprehensive review of the medical history prior to molecular testing, especially in an asymptomatic patient. ..
  10. Sweetser S, Ahlquist D, Osborn N, Sanderson S, Smyrk T, Chari S, et al. Clinicopathologic features and treatment outcomes in Cronkhite-Canada syndrome: support for autoimmunity. Dig Dis Sci. 2012;57:496-502 pubmed publisher
    ..Furthermore, immunosuppression by corticosteroids or long-term azathioprine may eradicate or lessen manifestations of CCS. These histologic findings and treatment responses are consistent with an autoimmune mechanism underlying CCS. ..
  11. Omundsen M, Lam F. The other colonic polyposis syndromes. ANZ J Surg. 2012;82:675-81 pubmed publisher
    ..The two main syndromes of familial adenomatous polyposis and hereditary non-polyposis coli are the commonest. There is however a number of lesser known syndromes described, which is the focus of this article. ..
  12. Wu J, Liou J, Lien H, Hsu W, Fang Y, Chang M, et al. Bleeding from ileal nodular lymphoid polyposis identified by capsule endoscopy. J Pediatr Gastroenterol Nutr. 2004;39:295-8 pubmed
  13. Sasaki Y, Takeda H, Fujishima S, Sato T, Nishise S, Abe Y, et al. Nine-year follow-up from onset to spontaneous complete remission of cap polyposis. Intern Med. 2013;52:351-4 pubmed
    ..In this case, cap polyposis might have developed via mucosal prolapse syndrome and then regressed completely, irrespective of the Helicobacter pylori infection. ..
  14. Fischer R, Breidert M, Paul S, Kreisel W, Schmitt Gräff A, Waller C, et al. [A patient with chronic diarrhoe, head pigmentation and alopecia. Cronkhite-Canada syndrome]. Dtsch Med Wochenschr. 2010;135:339-42 pubmed publisher
    ..Typical myopathic lesions of CCS have not been described to date, but the demonstrated improvement of creatinin kinase with successful treatment suggests a common pathophysiological mechanism. ..
  15. Traussnigg S, Dolak W, Trauner M, Kazemi Shirazi L. Difficult case of Cronkhite-Canada syndrome with small intestinal bacterial overgrowth, Clostridium difficile infection and polymyalgia rheumatica. BMJ Case Rep. 2016;2016: pubmed publisher
    ..In CCS, long-term immunosuppressive therapy and close endoscopic cancer screening of the patient is essential. The treatment of vitamin deficiency and recurring SIBO helps to reduce symptoms. ..
  16. Boparai K, Mathus Vliegen E, Koornstra J, Nagengast F, van Leerdam M, van Noesel C, et al. Increased colorectal cancer risk during follow-up in patients with hyperplastic polyposis syndrome: a multicentre cohort study. Gut. 2010;59:1094-100 pubmed publisher
    ..To prevent malignant progression, adequate detection and removal of all polyps seems advisable. If this is not feasible, surgical resection should be considered. ..
  17. Lopes S, Vide J, Moreira E, Azevedo F. Cowden syndrome: clinical case and a brief review. Dermatol Online J. 2017;23: pubmed
    ..We present the case of a 53-year-old man with a history of benign and malignant thyroid disease, intestinal polyposis, and Chiari malformation...
  18. Cao X, Zhou B, Ding J, Lian J, Lu N, Wang B. [Clinical characteristics of Cronkhite-Canada syndrome in Chinese: meta-analysis of 35 cases]. Zhonghua Yi Xue Za Zhi. 2007;87:3130-2 pubmed
    ..The clinical features of Chinese CCS patients are similar to those of the European or Japanese patients. Novel appliance, case report standardization and sharing database may promote the understanding of this rare syndrome. ..
  19. Aretz S. Gene symbol: MUTYH. Hum Genet. 2007;120:914 pubmed
  20. Lam A, Carmichael R, Gertraud Buettner P, Gopalan V, Ho Y, Siu S. Clinicopathological significance of synchronous carcinoma in colorectal cancer. Am J Surg. 2011;202:39-44 pubmed publisher
    ..We examined the clinicopathological features of patients with synchronous colorectal carcinomas in a large cohort of patients. Attention to these features was important for better management of this group of cancer. ..
  21. Vasovcak P, Krepelova A, Puchmajerova A, Spicak J, Voska L, Musilova A, et al. A novel mutation of PTEN gene in a patient with Cowden syndrome with excessive papillomatosis of the lips, discrete cutaneous lesions, and gastrointestinal polyposis. Eur J Gastroenterol Hepatol. 2007;19:513-7 pubmed
    ..We found 'c.825_840delAAATACATTCTTCATA' deletion. This case affirmed that, for establishment of a correct diagnosis, especially for rare clinically overlapping syndromes, molecular testing is usually the only reliable method...
  22. Naoshima Ishibashi Y, Murofushi T. A case of Cronkhite-Canada syndrome with vestibular disturbances. Eur Arch Otorhinolaryngol. 2004;261:558-9 pubmed
    ..Neurological disorders such as sensory neuropathy have been reported in patients with CCS. This patient's balance problems could be due to CCS itself. ..
  23. Marsh Durban V, Jansen M, Davies E, Morsink F, Offerhaus G, Clarke A. Epithelial-specific loss of PTEN results in colorectal juvenile polyp formation and invasive cancer. Am J Pathol. 2014;184:86-91 pubmed publisher
    ..We conclude that stromal PTEN loss is not a prerequisite for the formation of juvenile polyps, and that colorectal juvenile polyps in CS are bona fide neoplastic precursor lesions. ..
  24. Cohen S, Ephrath H, Lewis J, Klevens A, Bergwerk A, Liu S, et al. Pediatric capsule endoscopy: review of the small bowel and patency capsules. J Pediatr Gastroenterol Nutr. 2012;54:409-13 pubmed publisher
    ..The patency capsule may lessen that risk. CE may identify gastric or colonic disease even when SB lesions are not present. ..
  25. Yuan B, Jin X, Zhu R, Zhang X, Liu J, Wan H, et al. Cronkhite-Canada syndrome associated with rib fractures: a case report. BMC Gastroenterol. 2010;10:121 pubmed publisher
    ..Besides, since prolonged corticosteroid therapy will result in an increased risk of osteoporotic fracture, CCS patients who accept corticosteroid therapy could be potential victims of rib fracture. ..
  26. Banville N, Broderick A, Fitzgerald R, Drumm B, McDermott M. Giant inflammatory polyposis coli as a manifestation of Crohn's disease in patients with coexistent cystic fibrosis. Pediatr Dev Pathol. 2006;9:25-30 pubmed
    ..This may lead to diagnostic confusion when examining endoscopic biopsies. ..
  27. Foulkes W, Bahubeshi A, Hamel N, Pasini B, Asioli S, Baynam G, et al. Extending the phenotypes associated with DICER1 mutations. Hum Mutat. 2011;32:1381-4 pubmed publisher
    ..DICER1 appears to be the first gene implicated in the etiology of cERMS, cPNET, and PS. Young adulthood sarcomas and perhaps congenital malformations such as TGA may also be associated...
  28. Fox V, Perros S, Jiang H, Goldsmith J. Juvenile polyps: recurrence in patients with multiple and solitary polyps. Clin Gastroenterol Hepatol. 2010;8:795-9 pubmed publisher
    ..Standardized protocols for detecting polyp recurrence, associated gene mutations, and neoplasia should be developed for children with juvenile polyps. ..
  29. Umemura K, Takagi S, Ishigaki Y, Iwabuchi M, Kuroki S, Kinouchi Y, et al. Gastrointestinal polyposis with esophageal polyposis is useful for early diagnosis of Cowden's disease. World J Gastroenterol. 2008;14:5755-9 pubmed
    ..7% of Japanese patients with Cowden's disease. The characteristic findings on gastrointestinal endoscopy can be a useful diagnostic clue to Cowden's disease. ..
  30. Bulow S, Bjork J, Christensen I, Fausa O, Jarvinen H, Moesgaard F, et al. Duodenal adenomatosis in familial adenomatous polyposis. Gut. 2004;53:381-6 pubmed
    ..The prevalence of duodenal carcinoma is much higher in familial adenomatous polyposis (FAP) than in the background population, and duodenal adenomatosis is found in most polyposis patients...
  31. Goodenberger M, Lindor N. Lynch syndrome and MYH-associated polyposis: review and testing strategy. J Clin Gastroenterol. 2011;45:488-500 pubmed publisher
    ..Genetic testing for MYH mutation is complicated by the phenotypic overlap of MYH-associated polyposis with other colorectal cancer syndromes. This study serves to clarify the best testing approach. ..
  32. Chow E, Lipton L, Carvajal Carmona L, Arthur G, Bhathal P, Kaur G, et al. A family with juvenile polyposis linked to the BMPR1A locus: cryptic mutation or closely linked gene?. J Gastroenterol Hepatol. 2007;22:2292-7 pubmed
    ..Cloning of a potentially responsible gene closely linked to the BMPR1A locus or a cryptic mutation in BMPR1A may offer valuable insights into the pathogenesis of JPS. ..
  33. Jee M, Yoon S, Kim E, Choi H, Kim J, Sung R, et al. A novel germline mutation in exon 10 of the SMAD4 gene in a familial juvenile polyposis. Gut Liver. 2013;7:747-51 pubmed publisher
    ..To our knowledge, this mutation has not been previously described. Careful family history collection and genetic screening in JPS patients are needed to identify FJP, and regular surveillance is recommended. ..
  34. Peters J, Rondonotti E, Weijmer M, Mulder C, Jacobs M. Lymphomatous polyposis of the small intestine. Gastrointest Endosc. 2008;67:763-5 pubmed publisher
  35. Septer S, Zhang L, Lawson C, Cocjin J, Attard T, Ardinger H. Aggressive juvenile polyposis in children with chromosome 10q23 deletion. World J Gastroenterol. 2013;19:2286-92 pubmed publisher
  36. Vibede L, Jensen U, Sørensen T, Pedersen L. [Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis in a two-year-old girl]. Ugeskr Laeger. 2012;174:1614-5 pubmed
    ..This case report describes how the combination of macrocephaly, hypertelorism, high palate and intestinal polyposis led to the diagnosis of this syndrome in a two year and seven month-old girl...
  37. Carr J, Dahdaleh F, Wang D, Howe J. Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling. J Surg Res. 2012;174:211-4 pubmed publisher
    ..These results support the hypothesis that disruption of the BMP signaling pathway is the likely etiology of JP in patients with SMAD4 mutations. ..
  38. Drug V, Balan G, Sângeap A, Akbar Q, Mitrica D, Dimofte G. Spiral enteroscopy--a novel method for the management of small bowel diseases--case report and description of technique. Rev Med Chir Soc Med Nat Iasi. 2011;115:101-4 pubmed
    ..In conclusion, this novel method seems to allow a rapid and efficient diagnosis of small bowel diseases. ..
  39. Sampson J, Harmon M, Cushman M, Krawitt E. Corticosteroid-responsive Cronkhite-Canada syndrome complicated by thrombosis. Dig Dis Sci. 2007;52:1137-40 pubmed
  40. Drini M, Wong N, Scott H, Craig J, Dobrovic A, Hewitt C, et al. Investigating the potential role of genetic and epigenetic variation of DNA methyltransferase genes in hyperplastic polyposis syndrome. PLoS ONE. 2011;6:e16831 pubmed publisher
    ..Genetic or epigenetic alterations in DNMT genes do not appear to be associated with HPS, but further investigation of genetic variation at rs62106244 is justified given the high frequency of the minor allele in this case series. ..
  41. Stauffer J, Adkisson C, Riegert Johnson D, Goldberg R, Bowers S, Asbun H. Pancreas-sparing total duodenectomy for ampullary duodenal neoplasms. World J Surg. 2012;36:2461-72 pubmed publisher
    ..3 %, respectively. Pancreaticobiliary leak was seen in 20 %, with an average LOS of 17 days. Although PSTD can be used to avoid PD and can be performed laparoscopically, it is technically challenging and still associated with morbidity. ..
  42. Aretz S, Uhlhaas S, Goergens H, Siberg K, Vogel M, Pagenstecher C, et al. MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. Int J Cancer. 2006;119:807-14 pubmed
    ..Colorectal surveillance starting at about 18 years of age is recommended for biallelic mutation carriers and siblings of MAP patients, who refuse predictive testing. ..
  43. Vasovcak P, Foretova L, Puchmajerova A, Krepelova A. [Juvenile polyposis syndrome]. Klin Onkol. 2012;25 Suppl:S16-7 pubmed
    ..Germline mutations in the SMAD4 and BMPR1A genes are found in 40% of the JP individuals. Hereditary hemorrhagic telangiectasia (HHT) and higher frequency of gastric polyposis are associated mostly with SMAD4 mutations. ..
  44. Franco M, Waisberg J, Lopes L. Multiple lymphomatous polyposis of the gastrointestinal tract. Sao Paulo Med J. 2004;122:131-3 pubmed
    ..After two cycles of chemotherapy there was a worsening of the general state, with an increase in the dimensions of the abdominal masses and sepsis, accompanied by progressive respiratory insufficiency, leading to death. ..
  45. Rubio C, Björk J. Cronkhite-Canada syndrome - A Case report. Anticancer Res. 2016;36:4215-7 pubmed
  46. Barros R, Mendes N, Howe J, Reis C, de Bolos C, Carneiro F, et al. Juvenile polyps have gastric differentiation with MUC5AC expression and downregulation of CDX2 and SMAD4. Histochem Cell Biol. 2009;131:765-72 pubmed publisher
    ..In conclusion, juvenile polyps have gastric transdifferentiation associated with downregulation of CDX2 and SMAD4, lending support to the role of the BMP/SMAD pathway in CDX2 regulation. ..
  47. Vernia P, Marcheggiano A, Marinaro V, Morabito S, Guzzo I, Pierucci A. Is Cronkhite-Canada Syndrome necessarily a late-onset disease?. Eur J Gastroenterol Hepatol. 2005;17:1139-41 pubmed
    ..The concept that Cronkhite-Canada Syndrome is a late-onset disease should probably be reconsidered as it may remain asymptomatic, and thus not diagnosed, for a long a time. ..
  48. Trufant J, Greene L, Cook D, McKinnon W, Greenblatt M, Bosenberg M. Colonic ganglioneuromatous polyposis and metastatic adenocarcinoma in the setting of Cowden syndrome: a case report and literature review. Hum Pathol. 2012;43:601-4 pubmed publisher
    ..Cutaneous features of Cowden syndrome in our patient include "cobblestone" lesions of the tongue and oral mucosa, facial trichilemmomas, multiple acral keratoses, and a storiform collagenoma. ..
  49. Jass J. Gastrointestinal polyposes: clinical, pathological and molecular features. Gastroenterol Clin North Am. 2007;36:927-46, viii pubmed
    ..One of the most important, but often neglected, of these is hyperplastic polyposis. ..
  50. Paski S, Semrad C. Small bowel tumors. Gastrointest Endosc Clin N Am. 2009;19:461-79 pubmed publisher
    ..This article describes the general features of small bowel tumors, clinical presentation, and diagnostic tests followed by a description of the more common tumor types and their management. ..
  51. Nakayama Y, Segawa J, Sujita K, Minagawa N, Torigoe T, Hisaoka M, et al. Intestinal bleeding from arteriovenous malformations of the small bowel in a patient with Cowden syndrome: report of a case. Surg Today. 2013;43:542-6 pubmed publisher
    ..This was a rare case of two AVMs involving the small bowel in a patient with Cowden syndrome. Enhanced CT was very useful and convenient for the detection of gastrointestinal AVMs in this case. ..
  52. Meral M, Demirpence M, Gonen C, Akarsu M, Kayahan H, Demirkan F, et al. Diffuse gastrointestinal involvement of mantle cell lymphoma. Turk J Gastroenterol. 2008;19:117-20 pubmed
    ..Gastrointestinal mantle cell lymphoma was confirmed with histopathological and immunohistochemical studies on biopsy specimens from colon, small intestine and stomach. The patient was successfully treated by combination chemotherapy...
  53. Niho N, Takahashi M, Kitamura T, Shoji Y, Itoh M, Noda T, et al. Concomitant suppression of hyperlipidemia and intestinal polyp formation in Apc-deficient mice by peroxisome proliferator-activated receptor ligands. Cancer Res. 2003;63:6090-5 pubmed
    ..of pioglitazone and bezafibrate, respectively, PPARgamma and PPARalpha agonists, on both hyperlipidemia and intestinal polyposis. Serum lipid levels in Apc(1309) mice and Min mice from 6 to 15 weeks of age were measured...