Diagnostic & Tumor Testing Criteria

 

Original Amsterdam Criteria

There should be at least three relatives with colon cancer and:

  • One should be a first-degree relative of the other two;
  • At least two successive generations should be affected;
  • At least one should be diagnosed before age 50;
  • Familial adenomatous polyposis should be excluded;
  • Tumors should be verified by pathological examination.

Vasen HF, Mecklin JP, Khan PM, Lynch HT. The International Collaborative Group on Hereditary Non-polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum. 1991;34:424-425. [Abstract]


 

Revised Amsterdam Criteria (Amsterdam Criteria II)

There should be at least three relatives with an HNPCC-associated cancer (cancer of the colorectum, endometrium, small bowel, ureter, or renal pelvis) and:

  • One should be a first-degree relative to the other two;
  • At least two successive generations should be affected;
  • At least one should be diagnosed before age 50;
  • Familial adenomatous polyposis should be excluded;
  • Tumors should be verified by pathological examination.

Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch Syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology. 1999;116:1453-1456. [Abstract]


 

Original Bethesda Criteria

  • Individuals with cancer in families that meet the Amsterdam criteria
  • Individuals with two HNPCC-related cancers, including synchronous and metachronous colorectal cancers or associated extracolonic cancers*
  • Individuals with colorectal cancer and a first-degree relative with colorectal cancer and/or HNPCC-related extracolonic cancer and/or a colorectal adenoma: one of the cancers diagnosed by age 45, and the adenoma diagnosed by age 40
  • Individuals with colorectal cancer or endometrial cancer diagnosed by age 45
  • Individuals with right-sided colorectal cancer with an undifferentiated pattern (solid/cribriform) on histopathology diagnosed by age 45
  • Individuals with signet-ring-cell-type colorectal cancer diagnosed by age 45
  • Individuals with adenomas diagnosed by age 40

*Endometrial, ovarian, gastric, hepatobiliary, or small bowel cancer or transitional cell carcinoma of the renal pelvis or ureter

Rodriguez-Bigas MA, Boland CR, Hamilton SR, et al. National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst. 1997; 89:1758-1762. [Abstract]


 

Revised Bethesda Guidelines

  • Individual with CRC diagnosed by age 50
  • Individual with synchronous or metachronous CRC, or other HNPCC-associated tumors regardless of age
  • Individual with CRC and MSI-H histology diagnosed by age 60
  • Individual with CRC and more than 1 FDR with an HNPCC-associated tumor, with one cancer diagnosed by age 50
  • Individual with CRC and more than 2 FDRs or SDRs with an HNPCC-associated tumor, regardless of age

Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch Syndrome) and microsatellite instability. J Natl Cancer Inst. 2004; 96: 261-268. [Abstract]