Format

Send to:

Choose Destination
See comment in PubMed Commons below
Cancer Genet. 2012 Jan-Feb;205(1-2):1-11. doi: 10.1016/j.cancergen.2012.01.009.

Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.

Author information

  • 1Division of Endocrinology, Department of Medicine, Diabetes and Metabolism, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

Abstract

Pheochromocytomas and paragangliomas (PCC/PGL) are tumors derived from the adrenal medulla or extra-adrenal ganglia, respectively. They are rare and often benign tumors that are associated with high morbidity and mortality due to mass effect and high circulating catecholamines. Although most PCCs and PGLs are thought to be sporadic, over one third are associated with 10 known susceptibility genes. Mutations in three genes causing well characterized tumor syndromes are associated with an increased risk of developing PCCs and PGLs, including VHL (von Hippel-Lindau disease), NF1 (Neurofibromatosis Type 1), and RET (Multiple Endocrine Neoplasia Type 2). Mutations in any of the succinate dehydrogenase (SDH) complex subunit genes (SDHA, SDHB, SDHC, SDHD) can lead to PCCs and PGLs with variable penetrance, as can mutations in the subunit cofactor, SDHAF2. Recently, two additional genes have been identified, TMEM127 and MAX. Although these tumors are rare in the general population, occurring in two to eight per million people, they are more commonly associated with an inherited mutation than any other cancer type. This review summarizes the known germline and somatic mutations leading to the development of PCC and PGL, as well as biochemical profiling for PCCs/PGLs and screening of mutation carriers.

Copyright © 2012 Elsevier Inc. All rights reserved.

PMID:
22429592
[PubMed - indexed for MEDLINE]
PMCID:
PMC3311650
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science Icon for PubMed Central
    Loading ...
    Write to the Help Desk