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Clinical features of multiple endocrine neoplasia type 2A and type 2B syndrome

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. 

Further information outlining the clinical features of multiple endocrine neoplasia type 2A and type 2B.

Clinical features of multiple endocrine neoplasia type 2A (MEN2A) syndrome

MEN2A is diagnosed clinically by the occurrence of two or more specific endocrine tumours in a single individual:

  •  medullary thyroid carcinoma (MTC)
  •  phaeochromocytoma (PC)
  •  primary hyperparathyroidism (PHPT)

MEN2A is subdivided into four phenotypes:

  1. Classical MEN2A (MTC +/- PHPT/PC)
  2. Familial MTC (four or more family members with MTC and no clinical evidence of PC, PHPT, or any MEN2B-specific non-endocrine clinical features in affected or at risk family members)*
  3. MEN2A with cutaneous lichen amyloidosis (CLA)
  4. MEN2A with Hirschsprung’s disease

*Familial MTC is now considered to be a variant of classical MEN2A, with decreased penetrance for PC and PHPT, rather than a distinct entity.

Clinical features of multiple endocrine neoplasia type 2B (MEN2B) syndrome

MEN2B is diagnosed clinically by the presence of early onset medullary thyroid cancer (MTC) with/without phaeochromocytoma and at least one characteristic non-endocrine clinical feature:

  • distinctive facies with enlarged lips
  • musculoskeletal manifestations (including marfanoid body habitus, kyphoscoliosis or lordosis and joint laxity)
  • mucosal ganglioneuromas (lips, tongue, conjunctiva, gastrointestinal tract) 
  • ocular features (medullated corneal nerve fibres, eyelid neuroma)
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Bibliography

American Thyroid Association Guidelines Task Force, R. T. Kloos, C. Eng, D. B. Evans, G. L. Francis, R. F. Gagel, H. Gharib, J. F. Moley, F. Pacini, M. D. Ringel, M. Schlumberger and S. A. Wells, Jr. 2009. "Medullary thyroid cancer: management guidelines of the American Thyroid Association." Thyroid 19(6):565-612

BACKGROUND: Inherited and sporadic medullary thyroid cancer (MTC) is an uncommon and challenging malignancy. The American Thyroid association (ATA) chose to create specific MTC Clinical Guidelines that would bring together and update the diverse MTC literature and combine it with evidence-based medicine and the knowledge and experience of a panel of expert clinicians. METHODS: Relevant articles were identified using a systematic PubMed search and supplemented with additional published materials. Evidence-based recommendations were created and then categorized using criteria adapted from the United States Preventive Services Task Force, Agency for Healthcare Research and Quality. RESULTS: Clinical topics addressed in this scholarly dialog included: initial diagnosis and therapy of preclinical disease (including RET oncogene testing and the timing of prophylactic thyroidectomy), initial diagnosis and therapy of clinically apparent disease (including preoperative testing and imaging, extent of surgery, and handling of devascularized parathyroid glands), initial evaluation and treatment of postoperative patients (including the role of completion thyroidectomy), management of persistent or recurrent MTC (including the role of tumor marker doubling times, and treatment of patients with distant metastases and hormonally active metastases), long-term follow-up and management (including the frequency of follow-up and imaging), and directions for future research. CONCLUSIONS: One hundred twenty-two evidence-based recommendations were created to assist in the clinical care of MTC patients and to share what we believe is current, rational, and optimal medical practice

Version 6

Date Summary of changes
28/02/2024 

Supporting document reviewed at March 2023 reference committee meeting alongside protocol ID 1429. Discussions continued via Teams. Approved for publication with the following changes made: 

  • Title addition of "syndrome"
  • Clinical features of MEN2A: Minor wording changes
  • Clinical features of MEN2B: Minor wording changes

Version number increased to V.6. To be reviewed alongside protocol ID 1429 at next scheduled review.

Version 5

Date Summary of changes
28/01/2021 

Supporting document reviewed at November 2018 and May 2019 reference committee meetings alongside protocol ID 1429. Discussions continued via email. Approved for publication with the following changes made: 

  • Clinical features of MEN2A
    • Minor wording changes
    • Four variants of MEN2A added
  • Clinical features of MEN2B:
    • Minor wording changes
  • References: reviewed and updated version added

Version number increased to V.5. To be reviewed alongside protocol ID 1429 at next scheduled review.

Version 4

Date Summary of changes
31/05/2017

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

Previous website ID: 340
09/11/2017 Supporting document reviewed with ID 1526.  No changes made. Version change to V.3. 
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.

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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The currency of this information is guaranteed only up until the date of printing, for any updates please check:

https://www.eviq.org.au/p/3181

19 Apr 2024