Hereditary nonpolyposis colorectal cancer
Alerts and Notices
Synopsis

The diagnosis of HNPCC can be made using Amsterdam II criteria:
- Three or more relatives with histologically verified HNPCC-associated cancer (colorectal cancer, cancer of the endometrium, small bowel, ureter, or renal pelvis), one of whom is a first-degree relative of the other two
- Cancer involving at least two generations
- One or more cancer cases diagnosed before 50 years of age
- Familial adenomatous polyposis should be excluded in the colorectal cases
- Tumors should be verified by pathologic examination
Confirmation of the diagnosis with genetic testing for a germline mutation in the MMR genes or in the EPCAM gene should be done. Once the diagnosis is made, first-degree family members should be tested.
Codes
ICD10CM:Z15.09 – Genetic susceptibility to other malignant neoplasm
SNOMEDCT:
315058005 – Hereditary nonpolyposis colon cancer
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Diagnostic Pearls
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Differential Diagnosis & Pitfalls
- Sporadic colon cancer
- Familial adenomatous polyposis (FAP)
- MUTYH-associated polyposis (MAP) (see familial multiple polyposis syndrome)
- Lynch-like syndrome
- Constitutional mismatch repair deficiency syndrome
- Familial colorectal cancer type X
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Management Pearls
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Therapy
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References
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Last Reviewed:12/10/2018
Last Updated:12/20/2018
Last Updated:12/20/2018