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Table 7. Characteristics of Paraganglioma (PGL) and Pheochromocytoma (PCC) Associated with Susceptibility Genesa

Germline Mutation  Syndrome Proportion of all PGL/PCC (%) Mean Age at Presentation (y) Penetrance of PGL/PCC (%) 
RET MEN25.335.650
VHL VHL9.028.610–26
NF1 NF12.941.60.1–5.7
SDHD PGL17.135.086
SDHFA2 PGL2<132.2100
SDHC PGL3<142.7Unknown
SDHB PGL45.532.777
SDHA -<340.0Unknown
KIF1B-beta -<146.0Unknown
EGLN1 -<143.0Unknown
TMEM127 -<242.8Unknown
MAX [44]-<234Unknown
UnknownCarney triad<127.5-
SDHB, C, D Carney-Stratakis<133Unknown
MEN1 MEN1<130.5Unknown
No mutationSporadic disease7048.3-

MEN1 = multiple endocrine neoplasia type 1; MEN2 = multiple endocrine neoplasia type 2; NF1 = neurofibromatosis type 1; VHL = von Hippel-Lindau.
aAdapted from Welander et al.[41]


  1. Welander J, Söderkvist P, Gimm O: Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. Endocr Relat Cancer 18 (6): R253-76, 2011.  [PUBMED Abstract]

  2. Burnichon N, Cascón A, Schiavi F, et al.: MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma. Clin Cancer Res 18 (10): 2828-37, 2012.  [PUBMED Abstract]