Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients

Up to 70% of patients with pheochromocytoma or paraganglioma (PPGL) harbor a somatic or germline mutation in one of the 22 genes described so far as related to the disease. However, patients with apparently sporadic PPGL tend to be excluded from genetic testing. This study should bring to an end years of controversy and debate, as it brings new evidence that highlights the need to recommend genetic testing for all patients with an apparently sporadic PPGL, regardless of the age of first PPGL diagnosis or the metastatic behavior. Of note, the study remarks benefits of identifying a somatic mutation for the patient and relatives. (By Dr. Maria Currás-Freixes, http://jmg.bmj.com/content/early/2015/08/12/jmedgenet-2015-103218 )

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