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• W2120076546 abstract "Abstract About 30% of phaeochromocytomas (PCCs), sympathetic paragangliomas (sPGLs) and parasympathetic paragangliomas (pPGLs) are due to a familial syndrome. In half of these patients the presentation is syndromic or accompanied by a positive family history. However, over 10% of patients with clinically sporadic disease are still affected by an inheritable disease. Patients with multiple and/or bilateral tumours or disease onset at a young age are at an increased likelihood of such a syndrome and require genetic counselling and DNA testing. A genotype–phenotype correlation is emerging: multiple endocrine neoplasia type 2 (MEN-2) and von Hippel – Lindau disease-associated adrenal PCCs are often bilateral. Extra-adrenal (malignant) sPGLs are more typical in SDHB families. Multiple pPGLs (sometimes together with PCCs) occur in the setting of SDHD mutations, and SDHC families suffer from familial singular pPGLs. Some familial tumours also show typical histological features which should be looked for and reported by the pathologist. We review endocrine tumour syndromes with PCCs and/or PGLs, and summarize their genetic background and clinical and morphological features, and give recommendations for genetic testing." @default.
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• W2120076546 date "2009-02-01" @default.
• W2120076546 modified "2023-09-26" @default.
• W2120076546 title "Familial endocrine tumours: phaeochromocytomas and extra-adrenal paragangliomas" @default.
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• W2120076546 doi "https://doi.org/10.1016/j.mpdhp.2009.01.003" @default.
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