Unusual phaeochromocytomas in African families: the importance of genetic testing

  • Amanda Krause NHLS & University of the Witwatersrand
  • Candice Feben NHLS & University of the Witwatersrand
  • Chantel van Wyk NHLS & University of the Witwatersrand
  • Kenneth Huddle University of the Witwatersrand
  • Frederick Raal University of the Witwatersrand
Keywords: Phaeochromocytomas, Genetic testing

Abstract

Phaeochromocytomas are catecholamine-secreting tumours that arise from chromaffin tissue. The majority of tumours arise within the adrenal gland and are benign; extra-adrenal phaeochromocytomas are also referred to as paragangliomas. Approximately 76% of phaeochromocytomas occur sporadically; the remaining 24% are familial, and therefore genetic conditions, including multiple endocrine neoplasia type 2 (MEN2), neurofibromatosis type 1 (NF1), Von Hippel-Lindau (VHL) syndrome and hereditary paragangliomaphaeochromocytoma syndrome should be considered as part of the differential diagnosis.1 In this article, we report on two black families with unusual phaeochromocytomas, diagnosed with VHL syndrome.

Author Biographies

Amanda Krause, NHLS & University of the Witwatersrand
Division of Human Genetics, NHLS and the School of Pathology, University of the Witwatersrand Rank: Head of Clinical Unit (MBBCh, PhD)
Candice Feben, NHLS & University of the Witwatersrand
Division of Human Genetics, NHLS and the School of Pathology, University of the Witwatersrand Rank: Registrar (MBBCh, DCH)
Chantel van Wyk, NHLS & University of the Witwatersrand
Division of Human Genetics, NHLS and the School of Pathology, University of the Witwatersrand Rank: Genetic Counsellor (MMed, Genetic counselling)
Kenneth Huddle, University of the Witwatersrand
Department of Medicine, Division of Endocrinology and Metabolism, Charlotte Maxeke Johannesburg Academic Hospital and the University of the Witwatersrand (FCP(SA), FRCP(London))
Frederick Raal, University of the Witwatersrand
Department of Medicine, Division of Endocrinology and Metabolism, Charlotte Maxeke Johannesburg Academic Hospital and the University of the Witwatersrand. (FRCP, FCP(SA), MMed(Int), PhD)
Published
2010-08-20
Section
Case Study