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A family with hereditary extra‐adrenal paragangliomas without evidence for mutations in the von Hippel‐Lindau disease or ret genes
Author(s) -
Filip Sköldberg,
Lars Grimelius,
Woodward Er,
Fredrik Rorsman,
EW van Schothorst,
Ola Winqvist,
F. Anders Karlsson,
Göran Åkerström,
O Kampe,
Eystein S. Husebye
Publication year - 1998
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1046/j.1365-2265.1998.00320.x
Subject(s) - paraganglioma , von hippel–lindau disease , exon , pheochromocytoma , germline mutation , germline , proto oncogene proteins c ret , gene , biology , mutation , genetics , cancer research , pathology , endocrinology , medicine , disease , receptor , neurotrophic factors , glial cell line derived neurotrophic factor
OBJECTIVES To characterize a family with hereditary paraganglioma, and to search for germline mutations in the von Hippel‐Lindau disease (VHL) tumour suppressor gene and the ret proto‐oncogene. DESIGN Patient records and histopathological reports were reviewed. Available tumour samples were reinvestigated using immunohistochemical techniques. The VHL gene was investigated by single strand conformational polymorphism analysis of PCR products amplified from exons 1, 2 and 3 and the 3′ untranslated region. The ret gene was analysed by amplifying and sequencing exons 10, 11 and 16. PATIENTS A family with paragangliomas in three consecutive generations was investigated. RESULTS The affected individuals were found to have multiple extra‐adrenal paragangliomas. All three affected individuals had retroperitoneal tumours, and two also had paraganglioma in the neck. No mutations of the VHL or ret genes were detected. CONCLUSIONS The described family may represent a novel dominantly inherited neuroendocrine tumour syndrome.