Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Intestinal Polyposis Syndromes Workup

  • Author: Evelyn K Hsu, MD; Chief Editor: Carmen Cuffari, MD  more...
 
Updated: Jul 21, 2015
 

Laboratory Studies

The following studies are indicated in patients with intestinal polyposis syndromes:

  • CBC count with differential and platelets
  • Stools for occult blood
  • Prothrombin time/activated partial thromboplastin time (if significant bleeding is present)
  • Serum albumin levels (if weight loss is present)
  • Genetic testing, including band 5q21-22 for Gardner syndrome (ie, familial adenomatous polyposis [FAP]), band 7p22, 5q21-22, and 3p21.3 for Turcot syndrome, band 19q13.3-13.4 for Peutz-Jeghers syndrome (PJS), band 10q23.3 for Bannayan-Riley-Ruvalcaba syndrome (BRR) and Cowden disease, band 9q22.3-q31 for Gorlin syndrome (GS)
  • Fecal alpha1-antitrypsin or fecal calprotectin (if albumin is low and weight loss is present; to evaluate for protein-losing enteropathy)
  • Levothyroxine (T4), triiodothyronine (T3), thyroid-stimulating hormone (TSH), thyroid antimicrosomal or thyroid peroxidase antibody to exclude Hashimoto thyroiditis in individuals with symptomatic Bannayan-Riley-Ruvalcaba syndrome
  • Liver function tests and alpha-fetoprotein level to screen for hepatoblastoma in patients with suspected Gardner syndrome and an abdominal mass; electrolytes, plasma or urine cortisol, and adrenocorticotropic hormone (ACTH) in patients with suspected Gardner syndrome if Cushing syndrome is present
Next

Imaging Studies

The role of imaging studies in favor of endoscopic examination has not been well established for individuals with intestinal polyposis syndromes.[51] Examples of endoscopic findings are shown in the images below.

Hamartomatous polyp, as seen in the stomach. (Endo Hamartomatous polyp, as seen in the stomach. (Endoscopic image).
Colon in familial adenomatous polyposis (FAP). (En Colon in familial adenomatous polyposis (FAP). (Endoscopic image).
Multiple large polyps in the colon. The polyp in t Multiple large polyps in the colon. The polyp in the center of the image is situated on a stalk. (Endoscopic image).

For those individuals with small bowel polyposis, double balloon enteroscopy (DBE), both antegrade and retrograde, can be successful in reaching and resecting targeted polyps.[52]  

Upper GI with small bowel followthrough (SBFT) can be used to evaluate for polyps.

Video capsule endoscopy is an emerging modality used to evaluate for small bowel polyps that spares radiation for the patient (see the image below).[53, 54]

Small bowel polyp. (Video capsule image). Small bowel polyp. (Video capsule image).

Air-contrast barium enema (BE) can be used to evaluate for colonic polyps in patients who are not candidates for colonoscopic examination.

Additional imaging studies in patients with Gardner syndrome may include the following:

  • Radiographs of the skull, teeth, and mandible to screen for osteomas and plan management of dental anomalies
  • CT scanning, ultrasonography, or MRI of the abdomen to evaluate abdominal masses (hepatoblastoma, adrenal carcinoma, mesenteric fibromas/desmoids)

In patients with Turcot syndrome, CNS imaging, GI imaging, and other imaging modalities are indicated if Gardner syndrome is suspected, as clinically warranted.

For patients with known PJS, perform routine screening, mammogram, and breast ultrasound for early detection of occult neoplasms. Perform ultrasonography or CT scanning of the pelvis or testicles to screen for possible malignancies in patients with conditions such as gynecomastia and precocious puberty.

For patients with known PTEN- hamartomatous syndrome imaging studies include the following:

  • Routine breast imaging to screen for neoplasia (Seventy five percent of females develop breast neoplasia.)
  • Imaging of the thyroid, if suggestive of malignancy
  • Imaging of the ovaries, if suggestive of malignancy
  • MRI of the head, if symptomatic
  • Radiography of the spine to monitor for scoliosis

For patients with known GS, perform radiography of the mandible, ribs, and spine to diagnose and treat anomalies. Perform CNS imaging to exclude hydrocephalus and medulloblastoma if warranted by clinical evaluation. Perform imaging of the ovaries to exclude pathologic conditions of the ovaries in women with suggestive symptoms.

Patients with GS should not require SBFT or BE for detection of polyps (only gastric polyps have been reported). In a series of 105 patients with GS, Kimonis et al reported the following radiologic findings:[31]

  • Calcification of the falx cerebri (65%)
  • Bridged sella (68%)
  • Flame-shaped lucencies in the phalanges, carpals, and metacarpals (30%)
  • Bifid ribs (26%)
  • Calcification of the tentorium cerebri (20%)
  • Hemivertebrae (15%)
  • Fused vertebral bodies (10%)
Previous
Next

Other Tests

All patients with polyposis syndromes require serial endoscopy and colonoscopy to evaluate for the degree of polyposis and survey for malignant transformation.

Previous
Next

Procedures

Perform upper endoscopy or colonoscopy to evaluate GI polyposis and perform surveillance for malignant transformation.

In patients who have PJS and chronic sinusitis, endoscopic evaluation for possible nasal polyposis may be required. Squamous cell carcinoma has been reported in a patient with PJS and nasal polyps.

In patients with GS, skin biopsies may be required to exclude basal cell carcinomas.

In patients with Cowden disease, biopsies of suspicious lesions that show on the mammogram are warranted to exclude neoplasia, and biopsies of other suspicious areas are indicated to exclude malignancy.

Previous
Next

Histologic Findings

Gruber et al characterized PJS hamartomas with an elongated frondlike epithelium possessing cystic dilatation of glands containing hypermucinous goblet cells atop a network of smooth muscle bundles.[55] Patients with BRR syndrome and Cowden disease also present with hamartomatous intestinal polyps. In contrast, other forms of juvenile polyposis consist of abundant lamina propria without the presence of smooth muscle bundles. Inflammatory polyps contain a well-differentiated mature epithelial layer with a smooth dome but lobulated appearance due to cyst formation without smooth muscle bundles.

Adenomatous polyps, found in patients with FAP and its variants, vary in size, ranging from single crypt adenomas to microadenomas of 2-5 crypts in size to sessile tubular adenomas visualized at endoscopy. Adenomas are composed of immature epithelial cells with increased proliferation rates above crypt requirements. Increased growth in size of adenomas enhances the formation of dysplasia. No smooth muscle bundles are present in adenomatous polyps.

Examples of histologic findings are shown in the images below.

Pedunculated tubular adenoma. Note the contrast be Pedunculated tubular adenoma. Note the contrast between the goblet cell-rich glands along the pedicle of the polyp and in the underlying normal colonic mucosa at the bottom and the dysplastic glands in the polyp proper. The dysplastic glands are more crowded and exhibit decreased mucin production. (Hematoxylin and eosin stain; 1X magnification).
Sessile tubular adenoma. The glands on the superfi Sessile tubular adenoma. The glands on the superficial aspect of the specimen are dysplastic and exhibit increased nuclear size, hyperchromasia, crowding, and decreased mucin production. (Hematoxylin and eosin stain, 4X magnification).
Hamartomatous (Peutz-Jeghers) polyp, small bowel. Hamartomatous (Peutz-Jeghers) polyp, small bowel. This pedunculated polyp has a cerebriform appearance due to the arborizing frond-like growth with delicate finger-like projections of the stroma. (Hematoxylin and eosin stain, 1X magnification).
Hamartomatous (Peutz-Jeghers) polyp, small bowel. Hamartomatous (Peutz-Jeghers) polyp, small bowel. Closer view of the fingerlike projections of the stroma demonstrates prominent smooth muscle fascicles between the glandular elements. (Hematoxylin and eosin stain, 4X magnification).
Previous
 
 
Contributor Information and Disclosures
Author

Evelyn K Hsu, MD Assistant Professor of Pediatrics, Division of Gastroenterology and Hepatology, Seattle Children's Hospital

Evelyn K Hsu, MD is a member of the following medical societies: American Association for the Study of Liver Diseases, American Gastroenterological Association, American Society of Transplantation, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, International Pediatric Transplant Association

Disclosure: Received grant/research funds from Roche for investigator.

Coauthor(s)

Petar Mamula, MD Associate Professor, Department of Pediatrics, Division of Gastroenterology and Nutrition, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine

Petar Mamula, MD is a member of the following medical societies: American Academy of Pediatrics, American Society for Gastrointestinal Endoscopy, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition

Disclosure: Nothing to disclose.

Eduardo D Ruchelli, MD Associate Professor of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine; Attending Physician, Department of Pathology, Children’s Hospital of Philadelphia

Eduardo D Ruchelli, MD is a member of the following medical societies: United States and Canadian Academy of Pathology, Society for Pediatric Pathology

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Stefano Guandalini, MD Founder and Medical Director, Celiac Disease Center, Chief, Section of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, University of Chicago Medical Center; Professor, Department of Pediatrics, Section of Gastroenterology, Hepatology and Nutrition, University of Chicago Division of the Biological Sciences, The Pritzker School of Medicine

Stefano Guandalini, MD is a member of the following medical societies: American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, European Society for Paediatric Gastroenterology, Hepatology & Nutrition, North American Society for the Study of Celiac Disease

Disclosure: Received consulting fee from AbbVie for consulting.

Chief Editor

Carmen Cuffari, MD Associate Professor, Department of Pediatrics, Division of Gastroenterology/Nutrition, Johns Hopkins University School of Medicine

Carmen Cuffari, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, Royal College of Physicians and Surgeons of Canada

Disclosure: Received honoraria from Prometheus Laboratories for speaking and teaching; Received honoraria from Abbott Nutritionals for speaking and teaching.

Additional Contributors

Jayant Deodhar, MD Associate Professor in Pediatrics, BJ Medical College, India; Honorary Consultant, Departments of Pediatrics and Neonatology, King Edward Memorial Hospital, India

Disclosure: Nothing to disclose.

Acknowledgements

Ann Scheimann, MD, MBA Associate Professor, Department of Pediatrics, Section of Nutrition and Gastroenterology, Baylor College of Medicine and Johns Hopkins Medical Institution

Ann Scheimann, MD, MBA is a member of the following medical societies: North American Society for Pediatric Gastroenterology and Nutrition

Disclosure: Nothing to disclose.

References
  1. Chargelaigue A. Des Polypes du Rectum. Thesis Paris. 1859.

  2. Turcot J, Despres JP, St Pierre F. Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases. Dis Colon Rectum. 1959 Sep-Oct. 2:465-8. [Medline].

  3. Baughman FA, List CF, Williams JR, et al. The glioma-polyposis syndrome. New England Journal of Medicine. 1969. 281:1345-46. [Medline].

  4. Erdman SH. Pediatric adenomatous polyposis syndromes: an update. Curr Gastroenterol Rep. 2007 Jun. 9(3):237-44. [Medline].

  5. Peutz J. Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane. Nederl Maandschr Geneesk. 1921. 10:1921.

  6. Jeghers H, McKusick VA, Katz KH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance. N Engl J Med. 1949 Dec 22. 241(25):993, illust; passim. [Medline].

  7. Lloyd KM 2nd, Dennis M. Cowden's disease. A possible new symptom complex with multiple system involvement. Ann Intern Med. 1963 Jan. 58:136-42. [Medline].

  8. Weary PE, Gorlin RJ, Gentry WC Jr, Comer JE, Greer KE. Multiple hamartoma syndrome (Cowden's disease). Arch Dermatol. 1972 Nov. 106(5):682-90. [Medline].

  9. Padberg GW, Schot JD, Vielvoye GJ, Bots GT, de Beer FC. Lhermitte-Duclos disease and Cowden disease: a single phakomatosis. Ann Neurol. 1991 May. 29(5):517-23. [Medline].

  10. HD Riley WS. Macrocephaly, pseudopapilledema and multiple hemangiomata: a previously undescribed heredofamilial syndrome. Pediatrics. 1960. 26:293-300.

  11. Bannayan GA. Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome. Arch Pathol. 1971 Jul. 92(1):1-5. [Medline].

  12. Lachlan KL, Lucassen AM, Bunyan D, Temple IK. Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. J Med Genet. 2007 Sep. 44(9):579-85. [Medline].

  13. Calva D, Howe JR. Hamartomatous polyposis syndromes. Surg Clin North Am. 2008 Aug. 88(4):779-817, vii. [Medline]. [Full Text].

  14. Gorlin RJ. Nevoid basal-cell carcinoma syndrome. Medicine (Baltimore). 1987 Mar. 66(2):98-113. [Medline].

  15. Hamilton SR, Liu B, Parsons RE, Papadopoulos N, Jen J, Powell SM. The molecular basis of Turcot's syndrome. N Engl J Med. 1995 Mar 30. 332(13):839-47. [Medline].

  16. Tops CM, Vasen HF, van Berge Henegouwen G, et al. Genetic evidence that Turcot syndrome is not allelic to familial adenomatous polyposis. Am J Med Genet. 1992 Jul 15. 43(5):888-93. [Medline].

  17. Hemminki A, Markie D, Tomlinson I, et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature. 1998 Jan 8. 391(6663):184-7. [Medline].

  18. Jenne DE, Reimann H, Nezu J, et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet. 1998 Jan. 18(1):38-43. [Medline].

  19. Volikos E, Robinson J, Aittomäki K, Mecklin JP, Järvinen H, Westerman AM. LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome. J Med Genet. 2006 May. 43(5):e18. [Medline]. [Full Text].

  20. Podsypanina K, Ellenson LH, Nemes A, Gu J, Tamura M, Yamada KM. Mutation of Pten/Mmac1 in mice causes neoplasia in multiple organ systems. Proc Natl Acad Sci U S A. 1999 Feb 16. 96(4):1563-8. [Medline].

  21. Jones KL, Smith DW, Harvey MA, Hall BD, Quan L. Older paternal age and fresh gene mutation: data on additional disorders. J Pediatr. 1975 Jan. 86(1):84-8. [Medline].

  22. Bisgaard ML, Fenger K, Bülow S, Niebuhr E, Mohr J. Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum Mutat. 1994. 3(2):121-5. [Medline].

  23. Paraf F, Jothy S, Van Meir EG. Brain tumor-polyposis syndrome: two genetic diseases?. J Clin Oncol. 1997 Jul. 15(7):2744-58. [Medline].

  24. Krush AJ, Giardiello FM. Development of a genetics registry: Hereditary intestinal polyposis and hereditary colon cancer registry at the Johns Hopkins Hospital, 1973-1988. Herrera L. Familial Adenomatous Polyposis. New York, NY: Alan R. Liss Inc; 1990.

  25. Farndon PA, Del Mastro RG, Evans DG, Kilpatrick MW. Location of gene for Gorlin syndrome. Lancet. 1992 Mar 7. 339(8793):581-2. [Medline].

  26. Burn J, Chapman P, Delhanty J, Wood C, Lalloo F, Cachon-Gonzalez MB. The UK Northern region genetic register for familial adenomatous polyposis coli: use of age of onset, congenital hypertrophy of the retinal pigment epithelium, and DNA markers in risk calculations. J Med Genet. 1991 May. 28(5):289-96. [Medline].

  27. Rustgi AK. The genetics of hereditary colon cancer. Genes Dev. 2007 Oct 15. 21(20):2525-38. [Medline].

  28. Nelen MR, Kremer H, Konings IB, Schoute F, van Essen AJ, Koch R. Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. Eur J Hum Genet. 1999 Apr. 7(3):267-73. [Medline].

  29. Van Meir EG. "Turcot's syndrome": phenotype of brain tumors, survival and mode of inheritance. Int J Cancer. 1998 Jan 5. 75(1):162-4. [Medline].

  30. Giardiello FM, Brensinger JD, Petersen GM. AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology. 2001 Jul. 121(1):198-213. [Medline].

  31. Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet. 1997 Mar 31. 69(3):299-308. [Medline].

  32. Klemmer S, Pascoe L, DeCosse J. Occurrence of desmoids in patients with familial adenomatous polyposis of the colon. Am J Med Genet. 1987 Oct. 28(2):385-92. [Medline].

  33. Bell B, Mazzaferri EL. Familial adenomatous polyposis (Gardner's syndrome) and thyroid carcinoma. A case report and review of the literature. Dig Dis Sci. 1993 Jan. 38(1):185-90. [Medline].

  34. Hanssen AM, Fryns JP. Cowden syndrome. J Med Genet. 1995 Feb. 32(2):117-9. [Medline].

  35. Distante S, Nasioulas S, Somers GR, Cameron DJ, Young MA, Forrest SM. Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study. J Med Genet. 1996 Feb. 33(2):157-60. [Medline].

  36. Fernandez Seara MJ, Martinez Soto MI, Fernandez Lorenzo JR, Trabazo S, Gamborino E, Forteza Vila J. Peutz-Jeghers syndrome in a neonate. J Pediatr. 1995 Jun. 126(6):965-7. [Medline].

  37. Blumenthal GM, Dennis PA. PTEN hamartoma tumor syndromes. Eur J Hum Genet. 2008 Nov. 16(11):1289-300. [Medline].

  38. Cohen S, Gorodnichenco A, Weiss B, et al. Polyposis syndromes in children and adolescents: a case series data analysis. Eur J Gastroenterol Hepatol. 2014 Sep. 26 (9):972-7. [Medline].

  39. Talbot I. Pathology. Phillips RKS SA, Thompson JPS. Familial Adenomatous Polyposis and Other Polyposis Syndrome. Oxford UP; 1994. 15-35.

  40. Hemminki A. The molecular basis and clinical aspects of Peutz-Jeghers syndrome. Cell Mol Life Sci. 1999 May. 55(5):735-50. [Medline].

  41. Tan WH, Baris HN, Burrows PE, Robson CD, Alomari AI, Mulliken JB. The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. J Med Genet. 2007 Sep. 44(9):594-602. [Medline].

  42. Genevieve D, Walter E, Gorry P, Jacquemont ML, Dupic L, Layet V. Gorlin syndrome presenting as prenatal chylothorax in a girl. Prenat Diagn. 2005 Nov. 25(11):997-9. [Medline].

  43. 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 Jan. 75(1):107-14. [Medline].

  44. Costa AG, Costa RO, Oliveira LR, Grossmann SM. Multiple oral radiopaque masses leading to Gardner's syndrome diagnosis. Gen Dent. 2013 Jul. 61(4):e12-4. [Medline].

  45. Yun SH, Cho JW, Kim JW, Kim JK, Park MS, Lee NE, et al. Cronkhite-Canada syndrome associated with serrated adenoma and malignant polyp: a case report and a literature review of 13 cronkhite-Canada syndrome cases in Korea. Clin Endosc. 2013 May. 46(3):301-5. [Medline]. [Full Text].

  46. Peifer M. Cancer, catenins, and cuticle pattern: a complex connection. Science. 1993 Dec 10. 262(5140):1667-8. [Medline].

  47. Arch EM, Goodman BK, Van Wesep RA, Liaw D, Clarke K, Parsons R. Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. Am J Med Genet. 1997 Sep 5. 71(4):489-93. [Medline].

  48. Hahn H, Wicking C, Zaphiropoulous PG, Gailani MR, Shanley S, Chidambaram A. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell. 1996 Jun 14. 85(6):841-51. [Medline].

  49. Johnson RL, Rothman AL, Xie J, et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science. 1996 Jun 14. 272(5268):1668-71. [Medline].

  50. Bale AE. Variable expressivity of patched mutations in flies and humans. Am J Hum Genet. 1997 Jan. 60(1):10-2. [Medline].

  51. Winawer SJ, Zauber AG, Fletcher RH, et al. Guidelines for colonoscopy surveillance after polypectomy: a consensus update by the US Multi-Society Task Force on Colorectal Cancer and the American Cancer Society. Gastroenterology. 2006 May. 130(6):1872-85. [Medline].

  52. Gorospe EC, Alexander JA, Bruining DH, et al. Performance of double-balloon enteroscopy for the management of small bowel polyps in hamartomatous polyposis syndromes. J Gastroenterol Hepatol. 2013 Feb. 28 (2):268-73. [Medline].

  53. Sidhu R, Sanders DS, McAlindon ME, Thomson M. Capsule endoscopy and enteroscopy: modern modalities to investigate the small bowel in paediatrics. Arch Dis Child. 2008 Feb. 93(2):154-9. [Medline].

  54. de' Angelis GL, Fornaroli F, de' Angelis N, Magiteri B, Bizzarri B. Wireless capsule endoscopy for pediatric small-bowel diseases. Am J Gastroenterol. 2007 Aug. 102(8):1749-57; quiz 1748, 1758. [Medline].

  55. Gruber SB, Entius MM, Petersen GM, et al. Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome. Cancer Res. 1998 Dec 1. 58(23):5267-70. [Medline].

  56. Bulow S. Results of national registration of familial adenomatous polyposis. Gut. 2003 May. 52(5):742-6. [Medline].

  57. Howe JR, Mitros FA, Summers RW. The risk of gastrointestinal carcinoma in familial juvenile polyposis. Ann Surg Oncol. 1998 Dec. 5(8):751-6. [Medline].

  58. Winawer S, Fletcher R, Rex D, Bond J, Burt R, Ferrucci J. Colorectal cancer screening and surveillance: clinical guidelines and rationale-Update based on new evidence. Gastroenterology. 2003 Feb. 124(2):544-60. [Medline].

  59. Lopez-Ceron M, van den Broek FJ, Mathus-Vliegen EM, et al. The role of high-resolution endoscopy and narrow-band imaging in the evaluation of upper GI neoplasia in familial adenomatous polyposis. Gastrointest Endosc. 2013 Apr. 77(4):542-50. [Medline].

  60. Attard TM, Cuffari C, Tajouri T, Stoner JA, Eisenberg MT, Yardley JH. Multicenter experience with upper gastrointestinal polyps in pediatric patients with familial adenomatous polyposis. Am J Gastroenterol. 2004 Apr. 99(4):681-6. [Medline].

  61. Barnard J. Screening and surveillance recommendations for pediatric gastrointestinal polyposis syndromes. J Pediatr Gastroenterol Nutr. 2009 Apr. 48 Suppl 2:S75-8. [Medline]. [Full Text].

  62. Hughes LJ, Michels VV. Risk of hepatoblastoma in familial adenomatous polyposis. Am J Med Genet. 1992 Aug 1. 43(6):1023-5. [Medline].

  63. Burt RW. Colon cancer screening. Gastroenterology. 2000 Sep. 119(3):837-53. [Medline].

  64. Church JM, McGannon E, Burke C, Clark B. Teenagers with familial adenomatous polyposis: what is their risk for colorectal cancer?. Dis Colon Rectum. 2002 Jul. 45(7):887-9. [Medline].

  65. Howe JR, Roth S, Ringold JC, et al. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science. 1998 May 15. 280(5366):1086-8. [Medline].

  66. Howe JR, Ringold JC, Hughes JH, Summers RW. Direct genetic testing for Smad4 mutations in patients at risk for juvenile polyposis. Surgery. 1999 Aug. 126(2):162-70. [Medline].

  67. Jänne PA, Mayer RJ. Chemoprevention of colorectal cancer. N Engl J Med. 2000 Jun 29. 342(26):1960-8. [Medline].

  68. Yang K, Yang W, Mariadason J, Velcich A, Lipkin M, Augenlicht L. Dietary components modify gene expression: implications for carcinogenesis. J Nutr. 2005 Nov. 135(11):2710-4. [Medline].

  69. Macrae F. Wheat bran fiber and development of adenomatous polyps: evidence from randomized, controlled clinical trials. Am J Med. 1999 Jan 25. 106(1A):38S-42S. [Medline].

  70. Fuchs CS, Giovannucci EL, Colditz GA, Hunter DJ, Stampfer MJ, Rosner B. Dietary fiber and the risk of colorectal cancer and adenoma in women. N Engl J Med. 1999 Jan 21. 340(3):169-76. [Medline].

  71. Durno CA, Wong J, Berk T, Alingary N, Cohen Z, Esplen MJ. Quality of life and functional outcome for individuals who underwent very early colectomy for familial adenomatous polyposis. Dis Colon Rectum. 2012 Apr. 55(4):436-43. [Medline].

  72. Giardiello FM, Hamilton SR, Krush AJ, et al. Treatment of colonic and rectal adenomas with sulindac in familial adenomatous polyposis. N Engl J Med. 1993 May 6. 328(18):1313-6. [Medline].

 
Previous
Next
 
Familial adenomatous polyposis, total colectomy specimen. The colonic mucosa is studded with innumerable sessile and small pedunculated polyps, which involve the entire length of the specimen.
Pedunculated tubular adenoma. Note the contrast between the goblet cell-rich glands along the pedicle of the polyp and in the underlying normal colonic mucosa at the bottom and the dysplastic glands in the polyp proper. The dysplastic glands are more crowded and exhibit decreased mucin production. (Hematoxylin and eosin stain; 1X magnification).
Sessile tubular adenoma. The glands on the superficial aspect of the specimen are dysplastic and exhibit increased nuclear size, hyperchromasia, crowding, and decreased mucin production. (Hematoxylin and eosin stain, 4X magnification).
Hamartomatous (Peutz-Jeghers) polyp, small bowel. This pedunculated polyp has a cerebriform appearance due to the arborizing frond-like growth with delicate finger-like projections of the stroma. (Hematoxylin and eosin stain, 1X magnification).
Hamartomatous (Peutz-Jeghers) polyp, small bowel. Closer view of the fingerlike projections of the stroma demonstrates prominent smooth muscle fascicles between the glandular elements. (Hematoxylin and eosin stain, 4X magnification).
Hamartomatous polyp, as seen in the stomach. (Endoscopic image).
Colon in familial adenomatous polyposis (FAP). (Endoscopic image).
Small bowel polyp. (Video capsule image).
Multiple large polyps in the colon. The polyp in the center of the image is situated on a stalk. (Endoscopic image).
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.