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Amsterdam criteria

This document is a quick and concise evidence-based summary to provide additional information, instruction, or guidance to complement a treatment protocol or clinical resource document. 

The Amsterdam criteria were the first diagnostic guidelines developed to determine whether a family should be classified as having Lynch syndrome (LS). At this time the genes and their functions had not been identified and characterised, so the diagnosis of LS was based on the family cancer history and the age of onset of colorectal cancer. It is clear than many LS families do not meet Amsterdam criteria. It is also clear than many families that meet Amsterdam criteria have MMR-proficient colorectal cancer (i.e. not LS) or MMR-deficient colorectal cancer without a MMR-gene pathogenic variant (Lynch-like syndrome).

Today LS should be diagnosed on the basis of molecular studies of the MMR-genes and confirmation of carrying a pathogenic variant.

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A family who meets ALL the following:

  • at least three members of the family with colorectal cancer AND
  • at least one affected relative is a first-degree relative of both of the other two AND
  • at least two generations of the family have colorectal cancer AND
  • at least one of the cases of colorectal cancer was diagnosed under the age of 50

A family with three or more relatives with a LS-associated cancer plus ALL of the following:

  • at least one affected relative is a first-degree relative of both of the other two AND
  • at least two generations of the family have a LS-associated cancer AND
  • at least one of the cases of cancer was diagnosed under the age of 50 AND
  • familial adenomatous polyposis should be excluded in any cases of colorectal cancer; AND
  • tumours should be verified by pathological examination.

The original Amsterdam criteria limited the spectrum of LS-associated cancers to adenocarcinoma of the colorectum, endometrium, or small intestine and transitional cell carcinoma of the ureter or renal pelvis. It is now widely accepted that the cancer spectrum is broader than this and includes:

  • adenocarcinoma of the colorectum, endometrium, small intestine, stomach, ovary, or pancreas
  • transitional cell carcinoma of the ureter or renal pelvis
  • cholangiocarcinoma
  • brain tumour (usually glioblastoma)
  • sebaceous gland tumours
  • keratoacanthomas
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Bibliography

Vasen, H. F., J. P. Mecklin, P. M. Khan, et al. 1991. "The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)." Dis Colon Rectum 34(5):424-425
Vasen, H. F., P. Watson, J. P. Mecklin, et al. 1999. "New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC." Gastroenterology 116(6):1453-1456
Syngal, S., R. E. Brand, J. M. Church, et al. 2015. "ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes." Am J Gastroenterol 110(2):223-262; quiz 263

This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer. Age at diagnosis and lineage (maternal and/or paternal) should be documented for all diagnoses, especially in first- and second-degree relatives. When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family history evaluation and/or tumor analysis to confirm a diagnosis and allow for predictive testing of at-risk relatives. Genetic testing should be conducted in the context of pre- and post-test genetic counseling to ensure the patient's informed decision making. Patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations should receive appropriate surveillance measures in order to minimize their overall risk of developing syndrome-specific cancers. This guideline specifically discusses genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz-Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer.

Version 4

Date Summary of changes
06/09/2019 "Mutation" changed to "pathogenic variant" throughout document for consistency among eviQ cancer genetics protocols per agreement among the cancer genetics reference committees' chairs. Definition of "pathogenic variant" added as a pop-up. Version number increased to V.4.
13/08/2021 Reviewed in line with ID 619 and ID 1410 at August 2020 cancer genetics reference committee meeting. No changes. Next review in line with ID 619 and ID 1410.
16/04/2024 Reviewed in line with ID 619 and ID 1410 at October 2023 cancer genetics reference committee meeting. Addition of "..and confirmation of carrying a pathogenic variant" to introduction. Next review in line with ID 619 and ID 1410.

Version 3

Date Summary of changes
31/05/2017 Transferred to new eviQ website.Version change to V.3. 
Previous website ID: 176
29/11/2018 ACI reviewed offline and published with no changes

Version 2

Date Summary of changes
26/05/2008 Approved
05/05/2010 Reviewed and published on eviQ
13/02/2013 Table reviewed and updated. Change to version V.2.
10/08/2015 Reviewed with ID 1410 Risk Management for Lynch Syndrome. No changes. For review in 1 year

The information contained in this document is based on the highest level of available evidence and consensus of the eviQ reference committee regarding their views of currently accepted approaches to care or treatment. Any clinician seeking to apply or consult this document is expected to use independent clinical judgement in the context of individual clinical circumstances to determine any patient's care or treatment. While eviQ endeavours to link to reliable sources that provide accurate information, eviQ and the Cancer Institute NSW do not endorse or accept responsibility for the accuracy, currency, reliability or correctness of the content of linked external information sources. Use is subject to eviQ’s disclaimer available at www.eviQ.org.au

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https://www.eviq.org.au/p/3242

18 Apr 2024