Skip to main content
NCBI home page
The Western Journal of Medicine logoLink to The Western Journal of Medicine
. 1980 Jun;132(6):488–499.

Gastrointestinal Polyposis: Syndromes and Genetic Mechanisms

Eldon J Gardner 1,2, Randall W Burt 1,2, James W Freston 1,2
PMCID: PMC1272141  PMID: 7405200

Abstract

Adenomas and hamartomas, two genetically transmitted histologic types of gastrointestinal polyposis, are associated in syndromes with extragastrointestinal manifestations. Adenomas that predispose to adenocarcinoma are basic to familial polyposis coli, the Gardner syndrome and the Turcot syndrome. Gastrointestinal polyps and extragastrointestinal lesions serve as a warning, providing time for diagnosis and treatment of adenomas to prevent their malignant transformation in patients and their relatives. Hamartomas with no malignancy potential, but having a tendency toward bleeding and bowel obstruction, are associated with the Peutz-Jeghers syndrome, juvenile polyposis, multiple hamartoma syndrome, basal-cell nevus syndrome and the Cronkhite-Canada syndrome. Most of these lesions and syndromes follow the inheritance pattern of a single autosomal dominant gene.

Full text

PDF
488

Images in this article

493Figure 3.
on p.493
493Figure 4.
on p.493
494Figure 5.
on p.494
495Figure 6.
on p.495
495Figure 7.
on p.495
495Figure 8.
on p.495

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Borgaonkar D. S., Trips L., Krush A. J., Murphy E. A. The identification of individuals at high risk for large bowel cancer and the application of preventive measures in their management: chromosome studies in Gardner syndrome and familial polyposis. Cancer. 1977 Nov;40(5 Suppl):2531–2533. doi: 10.1002/1097-0142(197711)40:5+<2531::aid-cncr2820400920>3.0.co;2-r. [DOI] [PubMed] [Google Scholar]
  2. Burney B., Assor D. Polyposis coli with adenocarcinoma associated with carcinoma in situ of the gallbladder. Am J Surg. 1976 Jul;132(1):100–102. doi: 10.1016/0002-9610(76)90299-3. [DOI] [PubMed] [Google Scholar]
  3. Bussey H. J., Veale A. M., Morson B. C. Genetics of gastrointestinal polyposis. Gastroenterology. 1978 Jun;74(6):1325–1330. [PubMed] [Google Scholar]
  4. CRONKHITE L. W., Jr, CANADA W. J. Generalized gastrointestinal polyposis; an unusual syndrome of polyposis, pigmentation, alopecia and onychotrophia. N Engl J Med. 1955 Jun 16;252(24):1011–1015. doi: 10.1056/NEJM195506162522401. [DOI] [PubMed] [Google Scholar]
  5. Camiel M. R., Mulé J. E., Alexander L. L., Benninghoff D. L. Association of thyroid carcinoma with Gardner's syndrome in siblings. N Engl J Med. 1968 May 9;278(19):1056–1058. doi: 10.1056/NEJM196805092781908. [DOI] [PubMed] [Google Scholar]
  6. Capps W. F., Jr, Lewis M. I., Gazzaniga D. A. Carcinoma of the colon, ampulla of Vater and urinary bladder associated with familial multiple polyposis: a case report. Dis Colon Rectum. 1968 Jul-Aug;11(4):298–305. doi: 10.1007/BF02617160. [DOI] [PubMed] [Google Scholar]
  7. Chaves F. J., Cruz I., Lopes C., De Morais M. Polyposis coli associated with fibrosis of mesentery, mesocolon and retroperitoneal tissues: a rare variant of Gardner's syndrome. Am J Gastroenterol. 1976 Feb;65(2):163–167. [PubMed] [Google Scholar]
  8. DAHN I., JONSSON N., LUNDH G. DESMOID TUMOURS. A SERIES OF 33 CASES. Acta Chir Scand. 1963 Oct;126:305–314. [PubMed] [Google Scholar]
  9. DUKES C. E. Familial intestinal polyposis. Ann Eugen. 1952 Aug;17(Pt 1):1–29. doi: 10.1111/j.1469-1809.1953.tb02531.x. [DOI] [PubMed] [Google Scholar]
  10. Danes B. S., Gardner E. J. The Gardner syndrome: a cell culture study on kindred 109. J Med Genet. 1978 Oct;15(5):346–351. doi: 10.1136/jmg.15.5.346. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Danes B. S., Krush A. J. The Gardner syndrome: a family study in cell culture. J Natl Cancer Inst. 1977 Mar;58(3):771–775. doi: 10.1093/jnci/58.3.771. [DOI] [PubMed] [Google Scholar]
  12. DeCosse J. J., Adams M. B., Condon R. E. Familial polyposis. Cancer. 1977 Jan;39(1):267–273. doi: 10.1002/1097-0142(197701)39:1<267::aid-cncr2820390141>3.0.co;2-x. [DOI] [PubMed] [Google Scholar]
  13. DeCosse J. J., Adams M. B., Condon R. E. Familial polyposis. Cancer. 1977 Jan;39(1):267–273. doi: 10.1002/1097-0142(197701)39:1<267::aid-cncr2820390141>3.0.co;2-x. [DOI] [PubMed] [Google Scholar]
  14. DeCosse J. J., Condon R. E., Adams M. B. Surgical and medical measures in prevention of large bowel cancer. Cancer. 1977 Nov;40(5 Suppl):2549–2552. doi: 10.1002/1097-0142(197711)40:5+<2549::aid-cncr2820400923>3.0.co;2-u. [DOI] [PubMed] [Google Scholar]
  15. Deschner E. E., Lipkin M. Proliferative patterns in colonic mucosa in familial polyposis. Cancer. 1975 Feb;35(2):413–418. doi: 10.1002/1097-0142(197502)35:2<413::aid-cncr2820350217>3.0.co;2-b. [DOI] [PubMed] [Google Scholar]
  16. Deschner E. E., Winawer S. J., Long F. C., Boyle C. C. Early detection of colonic neoplasia in patients at high risk. Cancer. 1977 Nov;40(5 Suppl):2625–2631. doi: 10.1002/1097-0142(197711)40:5+<2625::aid-cncr2820400936>3.0.co;2-v. [DOI] [PubMed] [Google Scholar]
  17. Elves M. W., Bourne M. S., Israëls M. C. Pyridoxine-responsive anaemia determined by an X-linked gene. J Med Genet. 1966 Mar;3(1):1–4. doi: 10.1136/jmg.3.1.1. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Erbe R. W. Inherited gastrointestinal-polyposis syndromes. N Engl J Med. 1976 May 13;294(20):1101–1104. doi: 10.1056/NEJM197605132942007. [DOI] [PubMed] [Google Scholar]
  19. FADER M., KLINE S. N., SPATZ S. S., ZUBROW H. J. Gardner's syndrome (intestinal polyposis, osteomas, sebaceous cysts) and a new dental discovery. Oral Surg Oral Med Oral Pathol. 1962 Feb;15:153–172. doi: 10.1016/0030-4220(62)90004-x. [DOI] [PubMed] [Google Scholar]
  20. Fenoglio C. M., Lane N. The anatomical precursor of colorectal carcinoma. Cancer. 1974 Sep;34(3):suppl–suppl:823. doi: 10.1002/1097-0142(197409)34:3+<819::aid-cncr2820340706>3.0.co;2-s. [DOI] [PubMed] [Google Scholar]
  21. GARDNER E. J. A genetic and clinical study of intestinal polyposis, a predisposing factor for carcinoma of the colon and rectum. Am J Hum Genet. 1951 Jun;3(2):167–176. [PMC free article] [PubMed] [Google Scholar]
  22. GARDNER E. J. Follow-up study of a family group exhibiting dominant inheritance for a syndrome including intestinal polyps, osteomas, fibromas and epidermal cysts. Am J Hum Genet. 1962 Dec;14:376–390. [PMC free article] [PubMed] [Google Scholar]
  23. GARDNER E. J., PLENK H. P. Hereditary pattern for multiple osteomas in a family group. Am J Hum Genet. 1952 Mar;4(1):31–36. [PMC free article] [PubMed] [Google Scholar]
  24. GARDNER E. J., RICHARDS R. C. Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis. Am J Hum Genet. 1953 Jun;5(2):139–147. [PMC free article] [PubMed] [Google Scholar]
  25. GARDNER E. J., STEPHENS F. E. Cancer of the lower digestive tract in one family group. Am J Hum Genet. 1950 Mar;2(1):41–48. [PMC free article] [PubMed] [Google Scholar]
  26. GARDNER E. J., WOOLF C. M. Intestinal polyposis and carcinoma originating from a mutation in a family group. Cancer. 1952 Jul;5(4):695–699. doi: 10.1002/1097-0142(195207)5:4<695::aid-cncr2820050407>3.0.co;2-5. [DOI] [PubMed] [Google Scholar]
  27. Gentry W. C., Jr, Eskritt N. R., Gorlin R. J. Multiple hamartoma syndrome (Cowden disease). Arch Dermatol. 1974 Apr;109(4):521–525. [PubMed] [Google Scholar]
  28. Haggitt R. C., Booth J. L. Bilateral fibromatosis of the breast in Gardner's syndrome. Cancer. 1970 Jan;25(1):161–166. doi: 10.1002/1097-0142(197001)25:1<161::aid-cncr2820250123>3.0.co;2-9. [DOI] [PubMed] [Google Scholar]
  29. Itai Y., Kogure T., Okuyama Y., Muto T. Radiographic features of gastric polyps in familial adenomatosis coli. AJR Am J Roentgenol. 1977 Jan;128(1):73–76. doi: 10.2214/ajr.128.1.73. [DOI] [PubMed] [Google Scholar]
  30. JEGHERS H., McKUSICK V. A., KATZ K. H. 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–passim. doi: 10.1056/NEJM194912222412501. [DOI] [PubMed] [Google Scholar]
  31. Jones E. L., Cornell W. P. Gardner's syndrome; review of the literature and report on a family. Arch Surg. 1966 Feb;92(2):287–300. doi: 10.1001/archsurg.1966.01320200127020. [DOI] [PubMed] [Google Scholar]
  32. Jones R. O. The in vitro effect of epithelial growth factor on rat organ cultures. Exp Cell Res. 1966 Oct;43(3):645–656. doi: 10.1016/0014-4827(66)90036-x. [DOI] [PubMed] [Google Scholar]
  33. Jones T. R., Nance F. C. Periampullary malignancy in Gardner's syndrome. Ann Surg. 1977 May;185(5):565–573. doi: 10.1097/00000658-197705000-00009. [DOI] [PMC free article] [PubMed] [Google Scholar]
  34. Kaneko H., Murohashi T., Katano A., Hojo H., Ishikawa S. Atrial myxoma associated with multiple hamartomas. Acta Pathol Jpn. 1976 Sep;26(5):603–610. doi: 10.1111/j.1440-1827.1976.tb00517.x. [DOI] [PubMed] [Google Scholar]
  35. Karakousis C. P., Berjian R. A., Lopez R., Rao U. Mesenteric fibromatosis in Gardner's syndrome. Arch Surg. 1978 Aug;113(8):998–1000. doi: 10.1001/archsurg.1978.01370200092018. [DOI] [PubMed] [Google Scholar]
  36. Kopelovich L. Phenotypic markers in human skin fibroblasts as possible diagnostic indices of hereditary adenomatosis of the colon and rectum. Cancer. 1977 Nov;40(5 Suppl):2534–2541. doi: 10.1002/1097-0142(197711)40:5+<2534::aid-cncr2820400921>3.0.co;2-f. [DOI] [PubMed] [Google Scholar]
  37. LLOYD K. M., 2nd, DENNIS M. Cowden's disease. A possible new symptom complex with multiple system involvement. Ann Intern Med. 1963 Jan;58:136–142. doi: 10.7326/0003-4819-58-1-136. [DOI] [PubMed] [Google Scholar]
  38. Leppard B., Bussey H. J. Epidermoid cysts, polyposis coli and Gardner's syndrome. Br J Surg. 1975 May;62(5):387–393. doi: 10.1002/bjs.1800620515. [DOI] [PubMed] [Google Scholar]
  39. Lipkin M. Phase 1 and phase 2 proliferative lesions of colonic epithelial cells in diseases leading to colonic cancer. Cancer. 1974 Sep;34(3):suppl–suppl:888. doi: 10.1002/1097-0142(197409)34:3+<878::aid-cncr2820340715>3.0.co;2-r. [DOI] [PubMed] [Google Scholar]
  40. Lipkin M. The identification of individuals at high risk for large bowel cancer: an overview. Cancer. 1977 Nov;40(5 Suppl):2523–2530. doi: 10.1002/1097-0142(197711)40:5+<2523::aid-cncr2820400919>3.0.co;2-x. [DOI] [PubMed] [Google Scholar]
  41. Lockhart-Mummery J. P. THE CAUSATION AND TREATMENT OF MULTIPLE ADENOMATOSIS OF THE COLON. Ann Surg. 1934 Jan;99(1):178–184. doi: 10.1097/00000658-193401000-00018. [DOI] [PMC free article] [PubMed] [Google Scholar]
  42. MCKUSICK V. A. Genetic factors in intestinal polyposis. JAMA. 1962 Oct 20;182:271–277. doi: 10.1001/jama.1962.03050420047012. [DOI] [PubMed] [Google Scholar]
  43. Macdonald J. M., Davis W. C., Crago H. R., Berk A. D. Gardner's syndrome and periampullary malignancy. Am J Surg. 1967 Mar;113(3):425–430. doi: 10.1016/0002-9610(67)90294-2. [DOI] [PubMed] [Google Scholar]
  44. Mark J., Mitelman F., Dencker H., Norryd C., Tranberg K. G. The specificity of the chromosomal abnormalities in human colonic polyps. A cytogenetic study of multiple polyps in a case of Gardner's syndrome. Acta Pathol Microbiol Scand A. 1973 Jan;81(1):85–90. doi: 10.1111/j.1699-0463.1973.tb00481.x. [DOI] [PubMed] [Google Scholar]
  45. Mathias J. R., Smith W. G. Mesenteric fibromatosis associated with familial polyposis. Am J Dig Dis. 1977 Aug;22(8):741–744. doi: 10.1007/BF01078358. [DOI] [PubMed] [Google Scholar]
  46. McAdam W. A., Goligher J. C. The occurrence of desmoids in patients with familial polyposis coli. Br J Surg. 1970 Aug;57(8):618–631. doi: 10.1002/bjs.1800570816. [DOI] [PubMed] [Google Scholar]
  47. Miller R. H., Sweet R. H. MULTIPLE POLYPOSIS OF THE COLON: A FAMILIAL DISEASE. Ann Surg. 1937 Apr;105(4):511–515. doi: 10.1097/00000658-193704000-00004. [DOI] [PMC free article] [PubMed] [Google Scholar]
  48. Moertel C. G., Hill J. R., Adson M. A. Management of multiple polyposis of the large bowel. Cancer. 1971 Jul;28(1):160–164. doi: 10.1002/1097-0142(197107)28:1<160::aid-cncr2820280132>3.0.co;2-q. [DOI] [PubMed] [Google Scholar]
  49. Muto T., Bussey H. J., Morson B. C. The evolution of cancer of the colon and rectum. Cancer. 1975 Dec;36(6):2251–2270. doi: 10.1002/cncr.2820360944. [DOI] [PubMed] [Google Scholar]
  50. Naylor E. W., Lebenthal E. Early detection of adenomatous polyposis coli in Gardner's syndrome. Pediatrics. 1979 Feb;63(2):222–227. [PubMed] [Google Scholar]
  51. PLENK H. P., GARDNER E. J. Osteomatosis (leontiasis ossea): hereditary disease of membranous bone formation associated in one family with polyposis of the colon. Radiology. 1954 Jun;62(6):830–840. doi: 10.1148/62.6.830. [DOI] [PubMed] [Google Scholar]
  52. Pavlides G. P., Milligan F. D., Clarke D. N., Cohen S. B., Wennstrom C. J., Burbige E. J., Krush A. J., Murphy E. A. Hereditary polyposis coli I: the diagnostic value of colonoscopy, barium enema, and fecal occult blood. Cancer. 1977 Nov;40(5 Suppl):2632–2639. doi: 10.1002/1097-0142(197711)40:5+<2632::aid-cncr2820400937>3.0.co;2-#. [DOI] [PubMed] [Google Scholar]
  53. Qizilbash A. H. Familial polyposis coli and periampullary carcinoma. Can J Surg. 1976 Mar;19(2):166–168. [PubMed] [Google Scholar]
  54. Rawson R. W. Colonic polyps: antecedent- or associated-lesions of large bowel cancer. Semin Oncol. 1976 Dec;3(4):361–367. [PubMed] [Google Scholar]
  55. SHEPHERD J. A. Familial polyposis of the colon with associated connective tissue tumours. J R Coll Surg Edinb. 1958 Sep;4(1):31–38. [PubMed] [Google Scholar]
  56. SHIFFMAN M. A. Familial multiple polyposis associated with soft-tissue and hard-tissue tumors. JAMA. 1962 Feb 17;179:514–522. doi: 10.1001/jama.1962.03050070036008. [DOI] [PubMed] [Google Scholar]
  57. SIMPSON R. D., HARRISON E. G., Jr, MAYO C. W. MESENTERIC FIBROMATOSIS IN FAMILIAL POLYPOSIS. A VARIANT OF GARDNER'S SYNDROME. Cancer. 1964 Apr;17:526–534. doi: 10.1002/1097-0142(196404)17:4<526::aid-cncr2820170414>3.0.co;2-q. [DOI] [PubMed] [Google Scholar]
  58. SMITH W. G. Desmoid tumors in familial multiple polyposis. Proc Staff Meet Mayo Clin. 1959 Jan 21;34(2):31–38. [PubMed] [Google Scholar]
  59. SMITH W. G. Multiple polyposis, Gardner's syndrome and desmoid tumors. Dis Colon Rectum. 1958 Sep-Oct;1(5):323–332. doi: 10.1007/BF02616659. [DOI] [PubMed] [Google Scholar]
  60. Sachatello C. R. Familial polyposis of the colon. A four-decade follow-up. Cancer. 1971 Sep;28(3):581–587. doi: 10.1002/1097-0142(197109)28:3<581::aid-cncr2820280309>3.0.co;2-e. [DOI] [PubMed] [Google Scholar]
  61. Sachatello C. R., Griffen W. O., Jr Hereditary polypoid diseases of the gastrointestinal tract: a working classification. Am J Surg. 1975 Feb;129(2):198–203. doi: 10.1016/0002-9610(75)90298-6. [DOI] [PubMed] [Google Scholar]
  62. Schenkein I., Bueker E. D., Helson L., Axelrod F., Dancis J. Increased nerve-growth-stimulating activity in disseminated neurofibromatosis. N Engl J Med. 1974 Mar 14;290(11):613–614. doi: 10.1056/NEJM197403142901108. [DOI] [PubMed] [Google Scholar]
  63. Schnur P. L., David E., Brown P. W., Jr, Beahrs O. H., ReMine W. H., Harrison E. G., Jr Adenocarcinoma of the duodenum and the Gardner syndrome. JAMA. 1973 Mar 12;223(11):1229–1232. [PubMed] [Google Scholar]
  64. Schuchardt W. A., Jr, Ponsky J. L. Familial polyposis and Gardner's syndrome. Surg Gynecol Obstet. 1979 Jan;148(1):97–103. [PubMed] [Google Scholar]
  65. Schwartz M. K. An evaluation of markers in the early detection of large bowel cancer. Cancer. 1977 Nov;40(5 Suppl):2620–2624. doi: 10.1002/1097-0142(197711)40:5+<2620::aid-cncr2820400935>3.0.co;2-c. [DOI] [PubMed] [Google Scholar]
  66. Schwartz R. A. Basal-cell-nevus syndrome and gastrointestinal polyposis. N Engl J Med. 1978 Jul 6;299(1):49–49. [PubMed] [Google Scholar]
  67. Sherlock P., Winawer S. J. The role of early diagnosis is controlling large bowel cancer. Cancer. 1977 Nov;40(5 Suppl):2609–2615. doi: 10.1002/1097-0142(197711)40:5+<2609::aid-cncr2820400933>3.0.co;2-u. [DOI] [PubMed] [Google Scholar]
  68. Smith W. G., Kern B. B. The nature of the mutation in familial multiple polyposis: papillary carcinoma of the thyroid, brain tumors, and familial multiple polyposis. Dis Colon Rectum. 1973 Jul-Aug;16(4):264–271. doi: 10.1007/BF02587699. [DOI] [PubMed] [Google Scholar]
  69. Snyder S. H. Editorial: Nerve growth in neurofibromatosis. N Engl J Med. 1974 Mar 14;290(11):626–627. doi: 10.1056/NEJM197403142901114. [DOI] [PubMed] [Google Scholar]
  70. TURCOT J., DESPRES J. P., 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;2:465–468. doi: 10.1007/BF02616938. [DOI] [PubMed] [Google Scholar]
  71. Turcot J., Blanchard H., Wolff D. Concepts regarding polyposis of the colon. Dis Colon Rectum. 1968 Jan-Feb;11(1):9–16. doi: 10.1007/BF02616739. [DOI] [PubMed] [Google Scholar]
  72. Utsunomiya J., Nakamura T. The occult osteomatous changes in the mandible in patients with familial polyposis coli. Br J Surg. 1975 Jan;62(1):45–51. doi: 10.1002/bjs.1800620111. [DOI] [PubMed] [Google Scholar]
  73. WEARY P. E., LINTHICUM A., CAWLEY E. P., COLEMAN C. C., Jr, GRAHAM G. F. GARDNER'S SYNDROME. A FAMILY GROUP STUDY AND REVIEW. Arch Dermatol. 1964 Jul;90:20–30. doi: 10.1001/archderm.1964.01600010026007. [DOI] [PubMed] [Google Scholar]
  74. WOOLF C. M., GARDNER E. J. Carcinoma of the gastrointestinal tract; in a Utah family. J Hered. 1950 Oct;41(10):273–276. doi: 10.1093/oxfordjournals.jhered.a106056. [DOI] [PubMed] [Google Scholar]
  75. WOOLF C. M., RICHARDS R. C., GARDNER E. J. Occasional discrete polyps of the colon and rectum showing an inherited tendency in a kindred. Cancer. 1955 Mar-Apr;8(2):403–408. doi: 10.1002/1097-0142(1955)8:2<403::aid-cncr2820080220>3.0.co;2-e. [DOI] [PubMed] [Google Scholar]
  76. Watne A. L., Core S. K., Carrier J. M. Gardner's syndrome. Surg Gynecol Obstet. 1975 Jul;141(1):53–56. [PubMed] [Google Scholar]
  77. Weinstock J. V., Kawanishi H. Gastrointestinal polyposis with orocutaneous hamartomas (Cowden's disease). Gastroenterology. 1978 May;74(5 Pt 1):890–895. [PubMed] [Google Scholar]
  78. Yonemoto R. H., Slayback J. B., Byron R. L., Jr, Rosen R. B. Familial polyposis of the entire gastrointestinal tract. Arch Surg. 1969 Oct;99(4):427–434. doi: 10.1001/archsurg.1969.01340160007003. [DOI] [PubMed] [Google Scholar]

Articles from Western Journal of Medicine are provided here courtesy of BMJ Publishing Group

RESOURCES