Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®)–Health Professional Version

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Changes to This Summary (05/18/2016)

The PDQ cancer information summaries are reviewed regularly and updated as new information becomes available. This section describes the latest changes made to this summary as of the date above.

Introduction

This section was comprehensively reviewed and extensively revised.

Multiple Endocrine Neoplasia Type 2 (MEN2)

Added text to state that two studies have found conflicting results suggesting that the C634R RET mutation is associated with a higher penetrance of medullary thyroid cancer–related pheochromocytoma (PHEO) and hyperparathyroidism and a higher likelihood of lymph node and distant metastases at an earlier age than is C634Y (cited Valdés et al. as reference 103); additional studies in larger populations are needed to further clarify this issue.

Added level of evidence 4aii for the use of calcitonin levels as a basis for the timing of thyroidectomy in RET mutation carriers.

The Treatment for those with MEN2-related PHEO subsection was comprehensively reviewed and extensively revised.

Familial PHEO and Paraganglioma Syndrome

This section was comprehensively reviewed and extensively revised.

This summary is written and maintained by the PDQ Cancer Genetics Editorial Board, which is editorially independent of NCI. The summary reflects an independent review of the literature and does not represent a policy statement of NCI or NIH. More information about summary policies and the role of the PDQ Editorial Boards in maintaining the PDQ summaries can be found on the About This PDQ Summary and PDQ® - NCI's Comprehensive Cancer Database pages.

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