Hereditary nonpolyposis colorectal cancer differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Maria Fernanda Villarreal, M.D. [2]Ali Akram, M.B.B.S.[3]

Overview

Hereditary nonpolyposis colorectal cancer must be differentiated from other diseases that cause familial colorectal cancer, such as: juvenile polyposis, familial adenomatous polyposis, Cowden syndrome, and MYH-associated polyposis.

Differentiating Hereditary Nonpolyposis Colorectal Cancer from other Diseases

HNPCC must be differentiated from other diseases, such as:[1]

Diseases History and Symptoms Physical Examination Laboratory Findings Other Findings
Abdominal Pain Rectal Bleeding Fatigue Abdominal Tenderness Hyperpigmentation Anemia Gene(s) Gastrointestinal Tumors Cancers
Hereditary Non–Polyposis Colon Cancer + + +/– +
Carney Syndrome
Familial Adenomatous Polyposis + + + +/– +
Peutz–Jeghers syndrome + + + + + +
Juvenile Polyposis Syndrome + +
Cowden Syndrome
Differential Diagnosis Similar Features Differentiating Features
Familial adenomatous polyposis
Juvenile polyposis
Cowden syndrome

References

  1. Kladny J, Lubinski J. Lynch syndrome (HNPCC). Hered Cancer Clin Pract. 2008;6(2):99-102.


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