Table 3.
| The Revised Bethesda Guidelines for testing colorectal tumors for microsatellite instability (MSI) |
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Tumors from individuals should be tested for MSI in the following situations: 1. Colorectal cancer diagnosed in a patient who is less than 50 years of age 2. Presence of synchronous, metachronous colorectal, or other HNPCC-associated tumors,a regardless of age 3. Colorectal cancer with the MSI-Hb histologyc diagnosed in a patient who is less than 60 years of aged 4. Colorectal cancer diagnosed in one or more first-degree relatives with an HNPCC-related tumor, with one of the cancers being diagnosed under age 50 years 5. Colorectal cancer diagnosed in two or more first- or second-degree relatives with HNPCC-related tumors, regardless of age |
| Amsterdam II Clinical criteria for families with Lynch syndrome |
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Each of the following criteria must be fulfilled: 3 or more relatives with an associated cancer (colorectal cancer, or cancer of the endometrium, small intestine, ureter or renal pelvis) 2 or more successive generations affected 1 or more relatives diagnosed before the age of 50 years 1 should be a first-degree relative of the other two Familial adenomatous polyposis (FAP) should be excluded in cases of colorectal carcinoma Tumors should be verified by pathologic examination |
aHereditary nonpolyposis colorectal cancer (HNPCC)-related tumors include colorectal, endometrial, stomach, ovarian, pancreas, ureter and renal pelvis, biliary tract, and brain (usually glioblastoma as seen in Turcot syndrome) tumors, sebaceous gland adenomas and keratoacanthomas in Muir–Torre syndrome, and carcinoma of the small bowel [26]
bMSI-H, microsatellite instability-high, in tumors refers to changes in two or more of the five National Cancer Institute recommended panels of microsatellite markers
cPresence of tumor infiltrating lymphocytes, Crohn’s-like lymphocytic reaction, mucinous/signet-ring differentiation, or medullary growth pattern
dThere was no consensus among the Workshop participants on whether to include the age criteria in guideline 3 above; participants voted to keep less than 60 years of age in the guidelines