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Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®)

Changes to This Summary (01/30/2015)

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.

Multiple Endocrine Neoplasia Type 2 (MEN2)

Added text to state that research is ongoing into the role of neutral RET sequence variants in modifying the clinical presentation of patients with MEN2A. The presence of certain RET polymorphisms is being analyzed for its impact on the likelihood for development of pheochromocytoma, hyperparathyroidism, and metastatic involvement with medullary thyroid cancer (MTC) (cited Siqueira et al., Ceolin et al., and Robledo et al. as references 191, 192, and 193, respectively).

Added text about a series of 503 at-risk individuals with American Thyroid Association level A or B mutations that reported a risk of developing MTC by age 50 years to be between 18% and 95%, depending on the codon, with codon 620 having the highest penetrance (cited Rich et al. as reference 108).

Added text to state that a double-blind, phase III trial that compared cabozantinib with placebo in 330 patients with progressive MTC showed an improvement in median progression-free survival across all subgroups (cited Elisei et al. as reference 223). Also added that, to date, neither cabozantinib nor vandetanib has demonstrated improved overall survival.

Familial Paraganglioma (FPGL) Syndrome

Added Lenders et al. as reference 27.

Added text to state that the SDHD mutation is normally not activated when inherited from the mother, and the risk of FPGL syndromes is not increased; however, the mutation is turned on when the gene is inherited from the father, and the risk is increased.

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.

  • Updated: January 30, 2015