eMedicine Specialties > General Surgery > Colorectal

Gardner Syndrome: Workup

Author: Hemant Singhal, MD, MBBS, FRCSE, FRCS(C), Senior Lecturer, Department of Surgery, Imperial College School of Medicine, UK; Consultant Surgeon, Northwick Park and St Marks Hospitals, UK
Coauthor(s): Scott M Hovis, MD, Staff Physician, Department of General Surgery, Spartanburg Regional Medical Center; Sidney R Steinberg, MD, FACS, Program Director, Department of General Surgery, Spartanburg Regional Healthcare System; Consulting Surgeon, Department of Surgery, WG Hefner Veterans Affairs Medical Center
Contributor Information and Disclosures

Updated: Feb 26, 2009

Workup

Laboratory Studies

  • Testing of peripheral leukocytes to evaluate for the APC gene and its mutation
  • Complete blood cell (CBC) count, carcinoembryonic antigen testing, and liver function tests to evaluate for possible metastasis
  • Thyroid function tests

Imaging Studies

  • Computed tomography (CT) scan of the abdomen and pelvis
  • Panoramic dental radiograph, chest radiograph, and skull radiograph to evaluate for osteomas

Other Tests

  • Slit-lamp examination and indirect ophthalmoscopy to evaluate for congenital hypertrophy of the retinal pigmented epithelium (CHRPE)

Diagnostic Procedures

  • Colonoscopy with direct visualization of polyps that carpet the colon - Criterion standard for the diagnosis of familial adenomatous polyposis
  • Esophagogastroduodenoscopy (EGD) for evaluation of gastric and duodenal polyps

More on Gardner Syndrome

Overview: Gardner Syndrome
Workup: Gardner Syndrome
Treatment: Gardner Syndrome
Follow-up: Gardner Syndrome
Multimedia: Gardner Syndrome
References

References

  1. Quyn AJ, Steele RJ, Carey FA, et al. Prognostic and therapeutic implications of Apc mutations in colorectal cancer. Surgeon. Dec 2008;6(6):350-6. [Medline].

  2. Debinski HS, Love S, Spigelman AD, et al. Colorectal polyp counts and cancer risk in familial adenomatous polyposis. Gastroenterology. Apr 1996;110(4):1028-30. [Medline].

  3. Gardner RJ, Kool D, Edkins E, et al. The clinical correlates of a 3' truncating mutation (codons 1982-1983) in the adenomatous polyposis coli gene. Gastroenterology. Jul 1997;113(1):326-31. [Medline].

  4. Tulchinsky H, Keidar A, Strul H, et al. Extracolonic manifestations of familial adenomatous polyposis after proctocolectomy. Arch Surg. Feb 2005;140(2):159-63; discussion 164. [Medline][Full Text].

  5. Giardiello FM, Yang VW, Hylind LM, et al. Primary chemoprevention of familial adenomatous polyposis with sulindac. N Engl J Med. Apr 4 2002;346(14):1054-9. [Medline][Full Text].

  6. Half E, Arber N. Colon cancer: preventive agents and the present status of chemoprevention. Expert Opin Pharmacother. Feb 2009;10(2):211-219. [Medline].

  7. Bess MA, Adson MA, Elveback LR, et al. Rectal cancer following colectomy for polyposis. Arch Surg. Apr 1980;115(4):460-7. [Medline].

  8. Gu GL, Wang SL, Wei XM, et al. Diagnosis and treatment of Gardner syndrome with gastric polyposis: a case report and review of the literature. World J Gastroenterol. Apr 7 2008;14(13):2121-3. [Medline].

  9. Norwood MG, Mann CD, West K, et al. Restorative proctocolectomy. Does ethnicity affect outcome?. Colorectal Dis. Oct 25 2008;[Medline].

  10. Almendingen K, Fausa O, Hostmark AT, et al. Serum nutrients and habitual dietary intake in colectomized FAP patients in Norway. Eur J Nutr. Jan 13 2009;[Medline].

  11. Ambroze WL Jr, Dozois RR, Pemberton JH, et al. Familial adenomatous polyposis: results following ileal pouch-anal anastomosis and ileorectostomy. Dis Colon Rectum. Jan 1992;35(1):12-5. [Medline].

  12. Dozois RR, Kelly KA, Welling DR, et al. Ileal pouch-anal anastomosis: comparison of results in familial adenomatous polyposis and chronic ulcerative colitis. Ann Surg. Sep 1989;210(3):268-71; discussion 272-3. [Medline][Full Text].

  13. Kartheuser AH, Parc R, Penna CP, et al. Ileal pouch-anal anastomosis as the first choice operation in patients with familial adenomatous polyposis: a ten-year experience. Surgery. Jun 1996;119(6):615-23. [Medline].

  14. Jang YS, Steinhagen RM, Heimann TM. Colorectal cancer in familial adenomatous polyposis. Dis Colon Rectum. Mar 1997;40(3):312-6. [Medline].

  15. Eccles DM, van der Luijt R, Breukel C, et al. Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene. Am J Hum Genet. Dec 1996;59(6):1193-201. [Medline][Full Text].

  16. Davies DR, Armstrong JG, Thakker N, et al. Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene. Am J Hum Genet. Nov 1995;57(5):1151-8. [Medline][Full Text].

  17. Filippakis GM, Zografos G, Pararas N, et al. Spontaneous regression of rectal polyps following abdominal colectomy and ileorectal anastomosis for familial adenomatous polyposis, without sulindac treatment: report of four cases. Endoscopy. Jul 2007;39(7):665-8. [Medline].

  18. Lynch HT. Desmoid tumors: genotype-phenotype differences in familial adenomatous polyposis--a nosological dilemma. Am J Hum Genet. Dec 1996;59(6):1184-5. [Medline][Full Text].

  19. Lynch HT, Fitzgibbons R Jr. Surgery, desmoid tumors, and familial adenomatous polyposis: case report and literature review. Am J Gastroenterol. Dec 1996;91(12):2598-601. [Medline].

  20. Nugent KP, Phillips RK, Hodgson SV, et al. Phenotypic expression in familial adenomatous polyposis: partial prediction by mutation analysis. Gut. Nov 1994;35(11):1622-3. [Medline][Full Text].

  21. Plail RO, Bussey HJ, Glazer G, et al. Adenomatous polyposis: an association with carcinoma of the thyroid. Br J Surg. May 1987;74(5):377-80. [Medline].

  22. Gordon PH, Nivatvongs S, eds. Principles and Practice of Surgery for the Colon, Rectum and Anus. 2nd ed. St Louis, Mo: Quality Medical Pub; 1999.

  23. Rodriguez-Bigas MA, Mahoney MC, Karakousis CP, et al. Desmoid tumors in patients with familial adenomatous polyposis. Cancer. Aug 15 1994;74(4):1270-4. [Medline].

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

  25. Sanabria JR, Croxford R, Berk TC, et al. Familial segregation in the occurrence and severity of periampullary neoplasms in familial adenomatous polyposis. Am J Surg. Jan 1996;171(1):136-40; discussion 140-1. [Medline].

  26. Traverso G, Shuber A, Levin B, et al. Detection of APC mutations in fecal DNA from patients with colorectal tumors. N Engl J Med. Jan 31 2002;346(5):311-20. [Medline][Full Text].

Further Reading

Keywords

Gardner syndrome, colon cancer, colorectal cancer, rectal cancer, familial adenomatous polyposis, colon polyps, adenomatous, polyposis, desmoid tumor, colon polyps, adenomatous polyposis, epidermoid cyst, Gardner's syndrome, FAP, colorectal carcinoma, APC gene, familial polyposis coli, FPC, hereditary adenomatosis of the colon and rectum, HACR, colon adenoma, rectum adenoma, rectal adenoma, colon tumor, rectum tumor, colon mass, rectum mass, rectal mass, rectal carcinoma, colon carcinoma, rectum carcinoma, intestinal polyposis, desmoid, rectal polyps

Contributor Information and Disclosures

Author

Hemant Singhal, MD, MBBS, FRCSE, FRCS(C), Senior Lecturer, Department of Surgery, Imperial College School of Medicine, UK; Consultant Surgeon, Northwick Park and St Marks Hospitals, UK
Hemant Singhal, MD, MBBS, FRCSE, FRCS(C) is a member of the following medical societies: Royal College of Physicians and Surgeons of Canada and Royal College of Surgeons of Edinburgh
Disclosure: Nothing to disclose.

Coauthor(s)

Scott M Hovis, MD, Staff Physician, Department of General Surgery, Spartanburg Regional Medical Center
Scott M Hovis, MD is a member of the following medical societies: American Medical Association and South Carolina Medical Association
Disclosure: Nothing to disclose.

Sidney R Steinberg, MD, FACS, Program Director, Department of General Surgery, Spartanburg Regional Healthcare System; Consulting Surgeon, Department of Surgery, WG Hefner Veterans Affairs Medical Center
Sidney R Steinberg, MD, FACS is a member of the following medical societies: American College of Surgeons, American Medical Association, Association for Surgical Education, South Carolina Medical Association, and Southeastern Surgical Congress
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

David L Morris, MD, PhD, Professor, Department of Surgery, St George Hospital, University of New South Wales, Australia
Disclosure: Nothing to disclose.

CME Editor

Paolo Zamboni, MD, Professor of Surgery, Chief of Day Surgery Unit, Chair of Vascular Diseases Center, University of Ferrara, Italy
Paolo Zamboni, MD is a member of the following medical societies: American Venous Forum and New York Academy of Sciences
Disclosure: Nothing to disclose.

Chief Editor

John Geibel, MD, DSc, MA, Vice Chairman, Professor, Department of Surgery, Section of Gastrointestinal Medicine and Department of Cellular and Molecular Physiology, Yale University School of Medicine; Director of Surgical Research, Department of Surgery, Yale-New Haven Hospital
John Geibel, MD, DSc, MA is a member of the following medical societies: American Gastroenterological Association, American Physiological Society, American Society of Nephrology, Association for Academic Surgery, International Society of Nephrology, New York Academy of Sciences, and Society for Surgery of the Alimentary Tract
Disclosure: AMGEN Royalty Other

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