Phaeochromocytoma, new genes and screening strategies

Clin Endocrinol (Oxf). 2006 Dec;65(6):699-705. doi: 10.1111/j.1365-2265.2006.02714.x.

Abstract

Following recent advances in the genetics of phaeochromocytomas and paragangliomas, the members of the European Network for the Study of Adrenal Tumours (ENS@T) Phaeochromocytoma Working Group have decided to share their genotyping data and to propose European recommendations for phaeochromocytoma/functional paraganglioma (PH/FPGL) genetic testing. Germline DNA from 642 patients was analysed by ENS@T teams. In 166 patients (25.9%) the disease was familial and caused by germline mutations in VHL (56), SDHB (34), SDHD (31), RET (31) or NF1 (14), causing von Hippel-Lindau disease, SDHB- or SDHD-PH/FPGL syndromes, multiple endocrine neoplasia type 2 (MEN 2) and type 1 neurofibromatosis (NF1), respectively. In almost 60% of inherited cases it was possible to formulate a probable genetic diagnosis based on family history and/or typical syndromic presentation. Genetic testing revealed mutations in 12.7% of cases with an apparently sporadic presentation. Several clinical characteristics, such as young age at onset, the presence of bilateral, extra-adrenal or multiple tumours or a malignant tumour, should be seen as indications for genetic testing. The ENS@T Phaeochromocytoma Working Group recommends the genetic testing of all patients with PH and FPGL and suggests a practice algorithm for the management of their exploration.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adrenal Gland Neoplasms / diagnosis
  • Adrenal Gland Neoplasms / genetics*
  • Algorithms
  • Genes, Neoplasm*
  • Genetic Markers
  • Genetic Testing
  • Genotype
  • Germ-Line Mutation
  • Humans
  • Paraganglioma / diagnosis
  • Paraganglioma / genetics
  • Patient Selection
  • Pheochromocytoma / diagnosis
  • Pheochromocytoma / genetics*

Substances

  • Genetic Markers