Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma.

Germline mutations in PTEN result in the uncommon Cowden Syndrome. Heterozygous mutations of SDH B, C and D are associated with the hereditary pheochromocytoma–paraganglioma syndrome. Zbuk et al. present the first-reported case of a woman with both PTEN and SDHC mutations, which resulted in multiple neoplasias. The authors highlight the need for predictive genetic tests and close clinical surveillance of patients with suspected Cowden or pheochromocytoma–paraganglioma syndromes.