A family with hereditary extra-adrenal paragangliomas without evidence for mutations in the von Hippel-Lindau disease or ret genes
- 1 January 1998
- journal article
- Published by Wiley in Clinical Endocrinology
- Vol. 48 (1) , 11-16
- https://doi.org/10.1046/j.1365-2265.1998.00320.x
Abstract
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. 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. A family with paragangliomas in three consecutive generations was investigated. 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. The described family may represent a novel dominantly inherited neuroendocrine tumour syndrome.This publication has 22 references indexed in Scilit:
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