SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis

Eamonn Maher

    Research output: Contribution to journalArticle

    54 Citations (Scopus)

    Abstract

    Mutations in SDHB are one of the causes of hereditary paraganglioma syndrome. Germline mutations in SDHB predispose to the development of head and neck paragangliomas and phaeochromocytomas. Renal tumours are also increasingly being reported as component tumours in hereditary paragangliomatosis associated with mutations in SDHB. We present the first reported case of a family in whom an individual shown to carry a mutation in SDHB developed a renal oncocytoma. We review other reports of renal tumours associated with SDHB-associated hereditary paragangliomatosis and suggest that various histological subtypes of renal tumours are part of this condition. This observation indicates that SDHB-associated hereditary paragangliomatosis is unlike most tumour predisposition syndromes associated with the development of renal tumours which are usually associated with specific histological sub-types. The increasing recognition of the involvement of renal tumours in SDHB mutation carriers suggests that renal screening is likely to be valuable for these patients. SDHB mutations should also be considered in the context of genetic testing when renal tumours, regardless of histopathology, present in families with other tumours consistent hereditary paraganglioma syndrome.
    Original languageEnglish
    Pages (from-to)257-260
    Number of pages4
    JournalFamilial Cancer
    Volume8
    Issue number3
    DOIs
    Publication statusPublished - 1 Sep 2009

    Keywords

    • SDHB
    • Renal cancer
    • Oncocytoma
    • Hereditary paragangliomatosis

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