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

SECTIONS

Changes to This Summary (06/24/2016)

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

Revised text to state that in 2004, the World Health Organization characterized pheochromocytomas (PHEOs) as adrenal gland tumors and paragangliomas (PGLs) as extra-adrenal tumors. Also revised text to state that either tumor may occur sporadically, as a manifestation of a hereditary syndrome, or as the sole tumor in familial PGL and PHEO syndrome.

Multiple Endocrine Neoplasia Type 1 (MEN1)

Revised text to state that familial MEN1 is defined as at least one MEN1 case plus at least one first-degree relative (FDR) with parathyroid tumors and primary hyperparathyroidism, duodenopancreatic neuroendocrine tumors (NETs), or pituitary tumors; or two FDRs with a germline mutation in MEN1.

Added text to state that the initial clinical presentation of symptoms typically occurs between the ages of 20 years and 30 years, although a diagnosis of MEN1 may not be confirmed for many more years; the age-related penetrance of MEN1 is 45% to 73% by age 30 years, 82% by age 50 years, and 96% by age 70 years.

Revised text to state that duodenopancreatic NETs seen in MEN1 include gastrinomas (cited MacFarlane et al. as reference 19) and nonfunctioning NETs.

Revised text to state that pituitary tumors can include somatotropinomas and corticotropinomas, or they may be nonfunctioning.

Added text to state that MEN1 germline mutation yield ranged from 16% to 38% for apparently sporadic cases of parathyroid, pancreatic islet, or pituitary tumors, warranting consideration of genetic testing in these individuals because a diagnosis of MEN1 would prompt screening for other MEN1-related tumors.

Added text to Table 2, Practice Guidelines for Surveillance of MEN1, to state that the age to initiate screening and the screening frequency for pituitary tumors may be debatable because the clinical significance of small, nonfunctional tumors is unclear (cited de Laat et al. as reference 62); further study may be warranted.

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.

< Previous section
Carney-Stratakis Syndrome

Next section >
About This PDQ Summary

News & Events - National Cancer Institute