Table 2.

Distinguishing Clinical Features of Hereditary PGL/PCC Syndromes by Genetic Etiology

GeneDistinguishing Clinical Features 1
Most frequent tumor typeFrequency of multiple or bilateral tumorsBiochemical phenotypeMetastatic riskMOI
MAX PCC~60% bilateralMixed25%Possibly paternal 2
SDHA PGL, PCCSingleMixedLowAD
SDHAF2 3 PGL (skull base & neck)~90% multipleUnclearLowPaternal 2
SDHB PGL~20% multipleNorepinephrine/
normetanephrine, nonsecreting		24% -58%AD
SDHC PGL~20% multipleNorepinephrine/
normetanephrine		LowAD
SDHD PGL (skull base & neck most common)~75% multipleNorepinephrine/
normetanephrine, often nonsecreting		<5%Paternal 4
TMEM127 PCC, rarely PGL~25% bilateralMixedLowAD

AD = autosomal dominant; MOI = mode of inheritance; PCC = pheochromocytoma; PGL = paraganglioma

1.

General rules of thumb; exceptions exist.

2.

Mode of inheritance is likely paternal; only a few pedigrees have been described.

3.

Phenotype is not well described as only a few families have been reported.

4.

Maternal transmission has been rarely reported.

From: Hereditary Paraganglioma-Pheochromocytoma Syndromes

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