Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.

ABSTRACT:

Background

Head and neck paragangliomas (HNPs) occur as sporadic or familial entities, the latter mostly in association with germline mutations of the SDHB, SDHC, or SDHD (SDHx) genes. Heritable non-SDHx HNP might occur in von Hippel-Lindau disease (VHL, VHL gene), multiple endocrine neoplasia type 2 (MEN2, RET gene), and neurofibromatosis type 1 (NF1, NF1 gene). Reports of non-SDHx HNP presentations are scarce and guidance for genetic testing nonexistent.

Patients and methods

An international consortium registered patients with HNPs and performed mutation analyses of the SDHx, VHL, and RET genes. Those with SDHx germline mutations were excluded for purposes of this study. Personal and family histories were evaluated for paraganglial tumors, for the major tumor manifestation

SUBMITTER: Boedeker CC 

PROVIDER: S-EPMC2690424 | biostudies-literature | 2009 Jun

REPOSITORIES: biostudies-literature