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Multiple endocrine neoplasia type 1 (MEN1) and multiple endocrine neoplasia type 4 (MEN4) diagnostic 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 key endocrine tumours associated with MEN type 1 and MEN type 4 are:

  1. Parathyroid tumours or hyperplasia (which manifests as primary hyperparathyroidism)
  2. Anterior pituitary adenomas
  3. Gastroduodenopancreatic neuroendocrine tumours (GDP-NET).

The diagnosis of MEN type 1 can be made on clinical, familial or genetic criteria. 

A clinical diagnosis of MEN type 1 is established in an individual with two or more key MEN1-associated tumours. 

A familial diagnosis of MEN type 1 is established in an individual with one key MEN1-associated tumour and a first degree relative with a clinical diagnosis of MEN1 (and not known to have a pathogenic variant in another endocrine tumour predisposition gene, e.g. CDKN1B, PRKAR1A, AIP, CDC73). 

A genetic diagnosis of MEN1 is established in an individual (who may be unaffected, and has not yet developed serum biochemical or radiological abnormalities due to tumour development) in whom identification of a germline MEN1 pathogenic variant has been identified. 

A diagnosis of familial isolated primary hyperparathyroidism (FIHP) may arise due to MEN1 pathogenic variants and is characterised by the occurrence of hereditary PHPT without the occurrence of other MEN1-associated tumours.

The diagnosis of MEN type 4 is made on genetic criteria only.

The MEN type 1 phenotype can occur in both a sporadic (no family history of MEN1 tumours) or familial setting, including:

  • an individual with a personal and family history of MEN1-associated tumours, and WITH/WITHOUT an identified MEN1 pathogenic variant (or another endocrine predisposition gene*)
  • an individual without a personal history of MEN1-associated tumours in a family who has MEN1-associated tumours WITH/WITHOUT an identified MEN1 pathogenic variant.

* In up to 30% of MEN1 patients who are diagnosed based on clinical criteria, MEN1 pathogenic variants are not identified.r

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Version 5

Date Summary of changes
26/11/2021

ACI reviewed for March 2021 eviQ cancer genetics reference committee meeting in line with IDs 1428 and 192. Discussion continued via MS Teams. ACI renamed and rewritten to cover multiple endocrine neoplasia type 4 (MEN4). Approved for publication.

Version increased to V.5. Review in line with IDs 1428 and 192.

Version 4

Date Summary of changes
31/05/2017

Transferred to new eviQ website. Version change to V.2.

Previous website ID: 315
08/10/2018

Presented at May 2018 RCM and discussion continued over email. Approved with the following changes:

  • Version number changed to V.3.
  • Diagnostic criteria for multiple endocrine neoplasia type 1 (MEN type 1) - heading removed.
  • 'Anterior' added to 2. pituitary adenomas
  • Point 3. changed from 'well-differentiated neuroendocrine tumours of the gastro-entero-pancreatic (GEP) tract' to 'gastro-entero-pancreatic neuroendocrine tumours (GEP-NET).'
  • Section added: The MEN type 1 phenotype can occur in both a familial and a sporadic setting; including a) b) c) d).
  • and not known to have a mutation in another endocrine tumour predisposition gene.* added to point 1, of Familial MEN type 1 definition.
  • *e.g. CDKN1B, PRKAR1A, AIP, CDC73 added to bottom
08/03/2019

Document updated offline on advice from endocrinologists, and approved with the following changes made:

  • gastroenteropancreatic NET (GEP-NET) changed to gastoduodenopancreatic NET (GDP-NET).

Version kept at V.3. and review dates to remain the same.
2/09/2019 "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.

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/3176

18 Apr 2024