Germline mutations and genotype–phenotype correlations in patients with apparently sporadic pheochromocytoma/paraganglioma in Korea

The aim of our study was to assess the frequency of germline mutations and develop the genetic testing strategy in patients with apparently sporadic pheochromocytoma/paraganglioma ( PPGL ) in Korea. We included 53 patients diagnosed with non‐syndromic PPGL without a family history of PPGLs in three referral centers from 2004 to 2011. Succinate dehydrogenase complex B ( SDHB ), SDHD , Von Hippel–Lindau ( VHL ), and rearranged during transfection ( RET ) genes were examined by direct sequencing and multiple ligation‐dependent probe amplification. The study patients were composed of 26 men and 27 women, and mean age was 50.1 ± 13.5 years. The frequency of germline mutations was 13.2% (7/53): RET ( n = 2), VHL ( n = 1), SDHB ( n = 2), and SDHD ( n = 2). Six of seven mutation carriers were diagnosed before the age of 50. One of two patients harboring an SDHB mutation had malignant PPGLs . One patient with multifocal head and neck paraganglioma ( PGL ) and pheochromocytoma ( PHEO ) carried a SDHD mutation. The carriers of germline mutations in patients with apparently sporadic PPGL were 13.2% in our study. We recommend genetic testing in patients below 50 years and SDHD genetic testing in patients with multifocal PPGLs . In malignant PPGLs , SDHB genetic testing may be performed.