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Following the initial report of Neumann et al (15),
genotyping of the main PPGL susceptibility genes (SDHB,
SDHD, VHL, RET) has been performed in eight studies,
each comprising more than 200 patients and encompassing
3694 subjects harboring 1250 germline mutations
(33.8%) (162, 163, 165–170) (Table 8). This high frequency
justifies consideration of genetic testing in each
patient with a PPGL. The highest frequencies of germline
mutations are for SDHB (10.3%), SDHD (8.9%), VHL
(7.3%), RET (6.3%), and NF1 (3.3%). Germline mutation
frequencies of less than 2% are found for SDHC,
SDHA,MAX, and TMEM127 (169, 171–173). No germline
SDHAF2 mutations were found in a series of 315
apparently sporadic PPGLs (174).