Intestinal Polyposis Syndromes Differential Diagnoses
- Author: Evelyn K Hsu, MD; Chief Editor: Carmen Cuffari, MD more...
Chargelaigue A. Des Polypes du Rectum. Thesis Paris. 1859.
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. Sep-Oct 1959;2:465-8. [Medline].
Baughman FA, List CF, Williams JR, et al. The glioma-polyposis syndrome. New England Journal of Medicine. 1969;281:1345-46. [Medline].
Erdman SH. Pediatric adenomatous polyposis syndromes: an update. Curr Gastroenterol Rep. Jun 2007;9(3):237-44. [Medline].
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.
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. Dec 22 1949;241(25):993, illust; passim. [Medline].
Lloyd KM 2nd, Dennis M. Cowden's disease. A possible new symptom complex with multiple system involvement. Ann Intern Med. Jan 1963;58:136-42. [Medline].
Weary PE, Gorlin RJ, Gentry WC Jr, Comer JE, Greer KE. Multiple hamartoma syndrome (Cowden's disease). Arch Dermatol. Nov 1972;106(5):682-90. [Medline].
Padberg GW, Schot JD, Vielvoye GJ, Bots GT, de Beer FC. Lhermitte-Duclos disease and Cowden disease: a single phakomatosis. Ann Neurol. May 1991;29(5):517-23. [Medline].
HD Riley WS. Macrocephaly, pseudopapilledema and multiple hemangiomata: a previously undescribed heredofamilial syndrome. Pediatrics. 1960;26:293-300.
Bannayan GA. Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome. Arch Pathol. Jul 1971;92(1):1-5. [Medline].
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. Sep 2007;44(9):579-85. [Medline].
Calva D, Howe JR. Hamartomatous polyposis syndromes. Surg Clin North Am. Aug 2008;88(4):779-817, vii. [Medline].
Gorlin RJ. Nevoid basal-cell carcinoma syndrome. Medicine (Baltimore). Mar 1987;66(2):98-113. [Medline].
Hamilton SR, Liu B, Parsons RE, Papadopoulos N, Jen J, Powell SM. The molecular basis of Turcot's syndrome. N Engl J Med. Mar 30 1995;332(13):839-47. [Medline].
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. Jul 15 1992;43(5):888-93. [Medline].
Hemminki A, Markie D, Tomlinson I, et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature. Jan 8 1998;391(6663):184-7. [Medline].
Jenne DE, Reimann H, Nezu J, et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet. Jan 1998;18(1):38-43. [Medline].
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. May 2006;43(5):e18. [Medline].
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. Feb 16 1999;96(4):1563-8. [Medline].
Jones KL, Smith DW, Harvey MA, Hall BD, Quan L. Older paternal age and fresh gene mutation: data on additional disorders. J Pediatr. Jan 1975;86(1):84-8. [Medline].
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].
Paraf F, Jothy S, Van Meir EG. Brain tumor-polyposis syndrome: two genetic diseases?. J Clin Oncol. Jul 1997;15(7):2744-58. [Medline].
Krush AJ, Giardiello FM. Development of a genetics registry: Hereditary intestinal polyposis and hereditary colon cancer registry at the Johns Hopkins Hospital, 1973-1988. In: Herrera L. Familial Adenomatous Polyposis. New York, NY: Alan R. Liss Inc; 1990.
Farndon PA, Del Mastro RG, Evans DG, Kilpatrick MW. Location of gene for Gorlin syndrome. Lancet. Mar 7 1992;339(8793):581-2. [Medline].
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. May 1991;28(5):289-96. [Medline].
Rustgi AK. The genetics of hereditary colon cancer. Genes Dev. Oct 15 2007;21(20):2525-38. [Medline].
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. Apr 1999;7(3):267-73. [Medline].
Van Meir EG. "Turcot's syndrome": phenotype of brain tumors, survival and mode of inheritance. Int J Cancer. Jan 5 1998;75(1):162-4. [Medline].
Giardiello FM, Brensinger JD, Petersen GM. AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology. Jul 2001;121(1):198-213. [Medline].
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. Mar 31 1997;69(3):299-308. [Medline].
Klemmer S, Pascoe L, DeCosse J. Occurrence of desmoids in patients with familial adenomatous polyposis of the colon. Am J Med Genet. Oct 1987;28(2):385-92. [Medline].
Bell B, Mazzaferri EL. Familial adenomatous polyposis (Gardner's syndrome) and thyroid carcinoma. A case report and review of the literature. Dig Dis Sci. Jan 1993;38(1):185-90. [Medline].
Hanssen AM, Fryns JP. Cowden syndrome. J Med Genet. Feb 1995;32(2):117-9. [Medline].
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. Feb 1996;33(2):157-60. [Medline].
Fernandez Seara MJ, Martinez Soto MI, Fernandez Lorenzo JR, Trabazo S, Gamborino E, Forteza Vila J. Peutz-Jeghers syndrome in a neonate. J Pediatr. Jun 1995;126(6):965-7. [Medline].
Blumenthal GM, Dennis PA. PTEN hamartoma tumor syndromes. Eur J Hum Genet. Nov 2008;16(11):1289-300. [Medline].
Talbot I. Pathology. In: Phillips RKS SA, Thompson JPS. Familial Adenomatous Polyposis and Other Polyposis Syndrome. Oxford UP; 1994:15-35.
Hemminki A. The molecular basis and clinical aspects of Peutz-Jeghers syndrome. Cell Mol Life Sci. May 1999;55(5):735-50. [Medline].
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. Sep 2007;44(9):594-602. [Medline].
Genevieve D, Walter E, Gorry P, Jacquemont ML, Dupic L, Layet V. Gorlin syndrome presenting as prenatal chylothorax in a girl. Prenat Diagn. Nov 2005;25(11):997-9. [Medline].
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. Jan 1974;75(1):107-14. [Medline].
Peifer M. Cancer, catenins, and cuticle pattern: a complex connection. Science. Dec 10 1993;262(5140):1667-8. [Medline].
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. Sep 5 1997;71(4):489-93. [Medline].
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. Jun 14 1996;85(6):841-51. [Medline].
Johnson RL, Rothman AL, Xie J, et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science. Jun 14 1996;272(5268):1668-71. [Medline].
Bale AE. Variable expressivity of patched mutations in flies and humans. Am J Hum Genet. Jan 1997;60(1):10-2. [Medline].
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. May 2006;130(6):1872-85. [Medline].
Sidhu R, Sanders DS, McAlindon ME, Thomson M. Capsule endoscopy and enteroscopy: modern modalities to investigate the small bowel in paediatrics. Arch Dis Child. Feb 2008;93(2):154-9. [Medline].
de' Angelis GL, Fornaroli F, de' Angelis N, Magiteri B, Bizzarri B. Wireless capsule endoscopy for pediatric small-bowel diseases. Am J Gastroenterol. Aug 2007;102(8):1749-57; quiz 1748, 1758. [Medline].
Gruber SB, Entius MM, Petersen GM, et al. Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome. Cancer Res. Dec 1 1998;58(23):5267-70. [Medline].
Bulow S. Results of national registration of familial adenomatous polyposis. Gut. May 2003;52(5):742-6. [Medline].
Howe JR, Mitros FA, Summers RW. The risk of gastrointestinal carcinoma in familial juvenile polyposis. Ann Surg Oncol. Dec 1998;5(8):751-6. [Medline].
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. Feb 2003;124(2):544-60. [Medline].
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. Apr 2004;99(4):681-6. [Medline].
Barnard J. Screening and surveillance recommendations for pediatric gastrointestinal polyposis syndromes. J Pediatr Gastroenterol Nutr. Apr 2009;48 Suppl 2:S75-8. [Medline].
Hughes LJ, Michels VV. Risk of hepatoblastoma in familial adenomatous polyposis. Am J Med Genet. Aug 1 1992;43(6):1023-5. [Medline].
Burt RW. Colon cancer screening. Gastroenterology. Sep 2000;119(3):837-53. [Medline].
Church JM, McGannon E, Burke C, Clark B. Teenagers with familial adenomatous polyposis: what is their risk for colorectal cancer?. Dis Colon Rectum. Jul 2002;45(7):887-9. [Medline].
Howe JR, Roth S, Ringold JC, et al. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science. May 15 1998;280(5366):1086-8. [Medline].
Howe JR, Ringold JC, Hughes JH, Summers RW. Direct genetic testing for Smad4 mutations in patients at risk for juvenile polyposis. Surgery. Aug 1999;126(2):162-70. [Medline].
Jänne PA, Mayer RJ. Chemoprevention of colorectal cancer. N Engl J Med. Jun 29 2000;342(26):1960-8. [Medline].
Yang K, Yang W, Mariadason J, Velcich A, Lipkin M, Augenlicht L. Dietary components modify gene expression: implications for carcinogenesis. J Nutr. Nov 2005;135(11):2710-4. [Medline].
Macrae F. Wheat bran fiber and development of adenomatous polyps: evidence from randomized, controlled clinical trials. Am J Med. Jan 25 1999;106(1A):38S-42S. [Medline].
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. Jan 21 1999;340(3):169-76. [Medline].
Giardiello FM, Hamilton SR, Krush AJ, et al. Treatment of colonic and rectal adenomas with sulindac in familial adenomatous polyposis. N Engl J Med. May 6 1993;328(18):1313-6. [Medline].
Ruhswurm I, Zehetmayer M, Dejaco C, Wolf B, Karner-Hanusch J. Ophthalmic and genetic screening in pedigrees with familial adenomatous polyposis. Am J Ophthalmol. May 1998;125(5):680-6. [Medline].
Watanabe K, Kawamori T, Nakatsugi S, Ohta T, Ohuchida S, Yamamoto H. Role of the prostaglandin E receptor subtype EP1 in colon carcinogenesis. Cancer Res. Oct 15 1999;59(20):5093-6. [Medline].

