Genetic analyses of apparently sporadic pheochromocytomas: The Rotterdam experience

E. Korpershoek, F. H. Van Nederveen, H. Dannenberg, B. J. Petri, P. Komminoth, A. Perren, J. W. Lenders, A. A. Verhofstad, W. W. De Herder, R. R. De Krijger, Winand N.M. Dinjens

Onderzoeksoutput: Hoofdstuk in Boek/Rapport/CongresprocedureConferentiebijdragepeer review

31 Citaten (Scopus)


Pheochromocytomas (PCCs) are neuroendocrine tumors of chromaffin tissue that produce catecholamines. They are usually located in the adrenal medulla, although in about 10% the tumors arise from extra-adrenal chromaffin tissue. The majority of PCCs arise sporadically, but PCCs occur also in the context of hereditary cancer syndromes. Familial PCC is inherited as an autosomal dominant trait alone or as a component of the multiple endocrine neoplasia Type 2 (MEN2) syndrome (RET gene), Von Hippel-Lindau (VHL) disease (VHL gene), neurofibromatosis Type 1 (NF1 gene), or familial pheochromocytoma-paraganglioma (PCC-PGL) syndrome (SDHD/B and C genes). It has been reported that 24% of apparently sporadic PCCs patients harbor germline mutations in these PCC-causing genes. We investigated the contribution of the inherited PCC-causing genes in a partly retrospectively and partly prospectively obtained series of 213 apparently sporadic PCCs. Mutation analysis was performed for RET (56 cases), VHL (136 cases), and SDHD (126 cases) and SDHB (47 cases). No germline RET mutations, six (4.4%) germline VHL mutations, two (1.5%) germline SDHD mutations, and one germline (1.6%) SDHB mutation were found. In total we found germline mutations in about 7.5% of the investigated apparently sporadic PCCs. Although 7.5% germline mutations in a series of apparently sporadic PCCs are far less than the more than 20% reported in the literature, the figure is significant enough to consider germline mutation testing for each patient with PCC.

Originele taal-2Engels
SubtitelFirst International Symposium
UitgeverijBlackwell Publishing Inc.
Aantal pagina's11
ISBN van geprinte versie1573315974, 9781573315975
StatusGepubliceerd - aug. 2006
Extern gepubliceerdJa

Publicatie series

NaamAnnals of the New York Academy of Sciences
ISSN van geprinte versie0077-8923
ISSN van elektronische versie1749-6632


Duik in de onderzoeksthema's van 'Genetic analyses of apparently sporadic pheochromocytomas: The Rotterdam experience'. Samen vormen ze een unieke vingerafdruk.

Citeer dit