Revised Criteria for Hereditary Non-Polyposis Colorectal Cancer (Lynch Syndrome)

Amsterdam Criteria (1991)

Three or more relatives with colorectal cancer, plus all of the following:

• One affected patient should be a first-degree relative of the other two;
• Colorectal cancer should involve at least two generations;
• At least one case of colorectal cancer should have been diagnosed before the age of 50 years.

Amsterdam II Criteria (Revised International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (HNPCC) Criteria 1998)

Three or more relatives with HNPCC-associated cancer (colorectal cancer or cancer of the endometrium, small bowel, ureter or renal pelvis) plus all of the following:

• One affected patient should be a first-degree relative of the other two;
• Two or more successive generations should be affected;
• Cancer in one or more affected relatives should be diagnosed before the age of 50 years;
• Familial adenomatous polyposis should be excluded in any cases of colorectal cancer;
• Tumours should be verified by pathological examination.

Modified Amsterdam Criteria

Just one of these criteria need to be met:

• Very small families, which can not be further expanded, can be considered to have HNPCC with only two colorectal cancers in first-degree relatives if at least two generations have the cancer and at least one case of colorectal cancer was diagnosed by the age of 55 years;
• In families with two first-degree relatives affected by colorectal cancer, the presence of a third relative with an unusual early-onset neoplasm or endometrial cancer is sufficient.

Revised Bethesda Criteria (2003)

Just one these criteria need to be met:

• Diagnosed with colorectal cancer before the age of 50 years;
• Synchronous or metachronous colorectal or other HNPCC-related tumours (which include stomach, bladder, ureter, renal pelvis, biliary tract, brain (glioblastoma), sebaceous gland adenomas, keratoacanthomas and carcinoma of the small bowel), regardless of age;
• Colorectal cancer with a high-microsatellite instability morphology that was diagnosed before the age of 60 years;
• Colorectal cancer with one or more first-degree relatives with colorectal cancer or other HNPCC-related tumours. One of the cancers must have been diagnosed before the age of 50 years (this includes adenoma, which must have been diagnosed before the age of 40 years);
• Colorectal cancer with two or more relatives with colorectal cancer or other HNPCC-related tumours, regardless of age.

References:

1. Chung DC, Rustgi AK. The hereditary nonpolyposis colorectal cancer syndrome: genetics and clinical implications. Ann Intern Med. 2003 Apr 1;138(7):560-70. [Medline]
2. Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, Nakagawa H, Sotamaa K, Prior TW, Westman J, Panescu J, Fix D, Lockman J, Comeras I, de la Chapelle A. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med. 2005 May 5;352(18):1851-60. [Medline]
3. Pinol V, Castells A, Andreu M, Castellvi-Bel S, Alenda C, Llor X, Xicola RM, Rodriguez-Moranta F, Paya A, Jover R, Bessa X; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA. 2005 Apr 27;293(16):1986-94. [Medline]