Amsterdam criteria

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The Amsterdam criteria are a set of diagnostic criteria used by doctors to help identify families which are likely to have

Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC).[1][2][3][4]

The Amsterdam criteria arose as a result of a meeting of the International Collaborative Group on Hereditary Non-Polyposis Colon Cancer in Amsterdam, in 1990.

colon, such as those of the endometrium, small intestine and ureter, became clearer. These changes in the knowledge of the syndrome lead to a revision of the Amsterdam criteria and were published in Gastroenterology journal in 1999.[4][5]

Criteria

The initial Amsterdam criteria were a series of clinical criteria that were colloquially known as the 3-2-1 rule. They were formulated to serve as a common starting point for future research into the genetics underlying the disease. The criteria were as follows:

  1. At least 3 relatives with histologically confirmed colorectal cancer, 1 of whom is a first degree relative of the other 2; familial adenomatous polyposis should be excluded;
  2. At least 2 successive generations involved;
  3. At least 1 of the cancers diagnosed before age 50.[5]

These criteria were found to be too strict and were expanded to include the associated non-colorectal cancers in 1998. These were called the Amsterdam II clinical criteria for families with Lynch syndrome.[4][6]

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.[4]

Alternatives

In 1997, the National Cancer Institute published a set of recommendations called the Bethesda guidelines for the identification of individuals who should receive genetic testing for Lynch syndrome related tumors.[6] The NCI revisited and revised these criteria in 2004.[7]

The Revised Bethesda Guidelines are as follows:

  • Colorectal carcinoma (CRC) diagnosed in a patient who is less than 50 years old;
  • Presence of synchronous (at the same time) or metachronous (at another time i.e.- a re-occurrence of) CRC or other Lynch syndrome-associated tumors, regardless of age;
  • CRC with high microsatellite instability histology diagnosed in a patient less than 60 years old;
  • CRC diagnosed in one or more first-degree relatives with a Lynch syndrome-associated tumor, with one of the cancers being diagnosed at less than 50 years of age;
  • CRC diagnosed in two or more first-degree or second-degree relatives with Lynch syndrome-associated tumors, regardless of age.[5]

The Revised Bethesda Guidelines have been reported as being more sensitive than the Amsterdam II Criteria in detecting individuals and families at risk of Lynch syndrome.[6]

References