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Multiple endocrine neoplasia type 1 (MEN1) - diagnostic criteria

The key endocrine tumours associated with MEN type 1 are:

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

The MEN type 1 phenotype can occur in both a familial and a sporadic setting, including:

  • an individual with a personal and family history of MEN1-associated tumours, and with an identified MEN1 pathogenic variant
  • an individual with a personal and family history of MEN1-associated tumours, but no identified pathogenic variant in MEN1 or another endocrine predisposition gene*
  • a single individual in a family who has MEN1-associated tumours and an identified MEN1 pathogenic variant
  • a single individual in a family who has MEN1-associated tumours but no identified MEN1 pathogenic variant (up to 20% of isolated individuals with tumours meeting clinical MEN type 1 diagnostic criteria do not have an identifiable pathogenic variant in MEN1 or another endocrine predisposition gene*).

A diagnosis of MEN type 1 is established in an individual who meets one of the following three criteria:

  1. two or more of the three key MEN1-associated endocrine tumours
  2. the occurrence of one of the key MEN1-associated tumours in a first-degree relative of a person with a clinical diagnosis of MEN type 1
  3. the identification of a germline MEN1 pathogenic variant in an individual, who may have or may not yet have developed serum biochemical or radiological abnormalities indicative of MEN1-associated tumour(s).

Familial MEN type 1 is defined as an individual who has either of the following:

  1. meets clinical diagnostic criteria for MEN type 1 and has at least one first-degree relative with one or more of these endocrine tumours and not known to have a pathogenic variant in another endocrine tumour predisposition gene.*
  2. has a MEN1 disease-causing germline pathogenic variant.

*e.g. CDKN1B, PRKAR1A, AIP, CDC73

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Bibliography

Thakker, R. V., P. J. Newey, G. V. Walls, et al. 2012. "Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1)." J Clin Endocrinol Metab 97(9):2990-3011.

OBJECTIVE: The aim was to provide guidelines for evaluation, treatment, and genetic testing for multiple endocrine neoplasia type 1 (MEN1). PARTICIPANTS: The group, which comprised 10 experts, including physicians, surgeons, and geneticists from international centers, received no corporate funding or remuneration. PROCESS: Guidelines were developed by reviews of peer-reviewed publications; a draft was prepared, reviewed, and rigorously revised at several stages; and agreed-upon revisions were incorporated. CONCLUSIONS: MEN1 is an autosomal dominant disorder that is due to mutations in the tumor suppressor gene MEN1, which encodes a 610-amino acid protein, menin. Thus, the finding of MEN1 in a patient has important implications for family members because first-degree relatives have a 50% risk of developing the disease and can often be identified by MEN1 mutational analysis. MEN1 is characterized by the occurrence of parathyroid, pancreatic islet, and anterior pituitary tumors. Some patients may also develop carcinoid tumors, adrenocortical tumors, meningiomas, facial angiofibromas, collagenomas, and lipomas. Patients with MEN1 have a decreased life expectancy, and the outcomes of current treatments, which are generally similar to those for the respective tumors occurring in non-MEN1 patients, are not as successful because of multiple tumors, which may be larger, more aggressive, and resistant to treatment, and the concurrence of metastases. The prognosis for MEN1 patients might be improved by presymptomatic tumor detection and undertaking treatment specific for MEN1 tumors. Thus, it is recommended that MEN1 patients and their families should be cared for by multidisciplinary teams comprising relevant specialists with experience in the diagnosis and treatment of patients with endocrine tumors.

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.

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01 Mar 2021