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Below are the Revised Bethesda Guidelines for testing colorectal tumors for microsatellite instability (MSI).
Colorectal or uterine cancer diagnosed in a patient how is less than 50 years of age
Presence of synchronous, metachronous colorectal, or other HNPCC-associated tumors, * regardless of age.
Colorectal cancer with the MSI-H ** histology *** diagnosed in a patient who is less than 60 years of age. +
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.
Colorectal cancer diagnosed in two or more first- or second-degree relatives with HNPCC-related tumors, regardless of age.
* Hereditary 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.
** MSI-H - microsatellite instability–high in tumors refers to changes in two or more of the five National Cancer Institute-recommended panels of microsatellite markers
*** Presence of tumor infiltrating lymphocytes, Crohn’s-like lymphocytic reaction, mucinous/signet-ring differentiation, or medullary growth pattern.
+ There was no consensus among the 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.
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