Reporting the full clinical picture linked to SDHx mutations

What is it about?

SDHx dene mutations lead to familial paragangliomatosis. It is now evident that such mutations can cause the occurrence of other solid tumors like renal, intestinal or pituitary tumors

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Why is it important?

Although the occurrence of these additional tumors is rare in SDHx mutation carriers, their occurrence, associated to elements of the clinical history or to their histological phenotype, should suggest the presence of a genetic background and lead to the discovery of a familial disease, with a clinical benefit for the patients and their family members.

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