Laboratory Studies

Laboratory studies that may be useful include the following:

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

Imaging Studies

Imaging studies that may be helpful are as follows:

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

Procedures

Diagnostic procedures that may be useful include the following:

Slit-lamp examination and indirect ophthalmoscopy to evaluate for congenital hypertrophy of the retinal pigmented epithelium (CHRPE)
Colonoscopy with direct visualization of polyps that carpet the colon - Criterion standard for the diagnosis of familial adenomatous polyposis (FAP)
Esophagogastroduodenoscopy (EGD) for evaluation of gastric and duodenal polyps

Treatment & Management

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Media Gallery

Adenoma-to-carcinoma sequence on a cellular level.
The mechanism of TP53 for normal function and for mutational effects.
Pictorial representation of the adenoma-to-carcinoma sequence.

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Author

Hemant Singhal, MD, MBBS, MBA, FRCS, FRCS(Edin), FRCSC Consultant Breast Surgeon, Clementine Churchill Hospital; Consultant Breast Surgeon, Harley Street Breast Clinic, UK

Hemant Singhal, MD, MBBS, MBA, FRCS, FRCS(Edin), FRCSC is a member of the following medical societies: Royal College of Physicians and Surgeons of Canada, Royal College of Surgeons of Edinburgh

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

David L Morris, MD, PhD, FRACS Professor, Department of Surgery, St George Hospital, University of New South Wales, Australia

David L Morris, MD, PhD, FRACS is a member of the following medical societies: British Society of Gastroenterology

Disclosure: Received none from RFA Medical for director; Received none from MRC Biotec for director.

Chief Editor

John Geibel, MD, MSc, DSc, AGAF Vice Chair and Professor, Department of Surgery, Section of Gastrointestinal Medicine, Professor, Department of Cellular and Molecular Physiology, Yale University School of Medicine; Director of Surgical Research, Department of Surgery, Yale-New Haven Hospital; American Gastroenterological Association Fellow; Fellow of the Royal Society of Medicine

John Geibel, MD, MSc, DSc, AGAF 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, Society for Surgery of the Alimentary Tract

Disclosure: Nothing to disclose.

Acknowledgements

William T Cummins, MD Consulting Staff, Healthstar Physicians

Disclosure: Nothing to disclose.

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.

Gardner Syndrome Workup

Laboratory Studies

Imaging Studies

Procedures

References

Tables

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