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"An individual doesn’t get cancer, a family does."

~ Terry Tempest Williams

DIAGNOSTIC GUIDELINES

Amsterdam Criteria I for HNPCC

The following must be met in order to make a diagnosis of Lynch syndrome:

• Three affected relatives with verified colorectal cancer
• One is a first-degree relative of the other two
• Two successive generations affected
• One of the relatives with colorectal cancer diagnosed under age fifty
• Familial Adenamomatus Polyposis (FAP) should be ruled out.

Amsterdam Criteria II for HNPCC

The following must be met in order to make a diagnosis of Lynch syndrome:

• Three affected relatives with an HNPCC-associated cancer
• One is a first-degree relative of the other two
• Two successive generations affected
• One of the relatives with HNPCC-associated cancer diagnosed under age fifty
• Familial Adenamomatus Polyposis (FAP) should be ruled out.

Approximately 50% of those meeting the Amsterdam II criteria will have Lynch syndrome.

Revised Bethesda Guidelines - testing of tumors for microsatellite instability (MSI)

Preliminary MSI testing of tumors should occur in the following situations:

• Colorectal cancer diagnosed in individuals under the age of 50
• Presence of synchronous, metachronous colorectal, or other HNPCC-associated tumors, regardless of age
• Colorectal cancer with the MSI-H histology diagnosed in a patient <60 years of age
• Colorectal cancer diagnosed in a patient with one or more first-degree relatives with an HNPCC-related tumor, and one of the cancers being diagnosed
• Colorectal cancer diagnosed in two or more first-degree or second-degree relatives with HNPCC-related tumors, regardless of age

† MSI-H = high microsatellite instability in tumors refers to changes in two or more of the five NCI-recommended panels of microsatellite markers. MSI-L = low microsatellite instability in tumors refers to changes in only one of the five NCI-recommended panels of microsatellite markers.

Hereditary Nonpolyposis Colorectal Cancer (HNPCC)-related tumors include colorectal, endometrial, stomach, ovarian, pancreas, bladder, ureter and renal pelvis, biliary tract, brain (usually glioblastoma as seen in Turcot Syndrome), prostate, sebaceous gland adenomas and keratoacanthomas in Muir-Torre syndrome, and carcinoma of the small bowel.

Breast cancer has been identified as an integral component of LS based upon mismatch repair germline mutation factors in breast cancer tissues from family members who are not only at high risk, but, moreover, who had Lynch syndrome cancers, such as involving the colorectum. Breast cancer is exceedingly common in the population and, therein, its occurence in Lynch syndrome families could be due to chance, but importantly, a subset will likely be integrally related to a germline mismatch repair Lynch syndrome mutation is some LS families. Therefore, it would be prudent to mount a screening and management program for Lynch syndrome in those families where breast cancer is believed to be an integral lesion.

Guidelines: Guidelines For The Clinical Management of Lynch Syndrome, Vasen, et. al. 2007

NCCN Guidelines Have Been Revised 11/2011 for Lynch Syndrome HNPCC Cancers

EGAPP Recommendations for Preliminary Screening And Genetic Testing

ACOG Practice Guidelines

American Society of Breast Surgeon Guidelines

American Society of Clinical Oncologists Guidelines

Society of Gynecological Oncologists Statement on Prophylactic Surgery

AMA Activity For Medical Professionals To Identify High Risk Individuals

National Society of Genetic Counselors

Reviewed 7/19/2012