Loading
One in four patients with an apparently sporadic adrenaline-producing tumour turned out to carry an inherited mutation in one of four genes, showing that pheochromocytoma is the most heritable of all tumours and that everyone with one should be offered genetic testing.
Study of 271 patients with pheochromocytoma or paraganglioma and no family history or syndromic features, from the Freiburg-Warsaw-Columbus registry, tested for germline mutations in VHL, RET, SDHD and SDHB.
Mutations were found in 66 patients (24 percent), most often in VHL and SDHB, and were associated with younger age, multifocal and extra-adrenal tumours. The finding transformed pheochromocytoma from a tumour with 10 percent heritability to one where germline testing is recommended for every patient.
Every patient with a pheochromocytoma or paraganglioma is now offered germline testing, which directs surveillance of the patient and relatives and, with SDHB, warns of metastatic risk.