Updated and New Perspectives on Diagnosis, Prognosis, and Therapy of Malignant Pheochromocytoma/Paraganglioma

Table 2

Correlations between gene mutations and clinical phenotype.

Syndrome	Gene	PCCs (%)	Sympathetic PGL	Parasympathetic PGL	Bilateral/multifocal neoplasia	Malignancy (%)
MEN 2A	RET	~50	Very rare	Extremely rare	+	<3
MEN 2B	RET	~50	Very rare	Extremely rare	+	<3
VHL	VHL	10–20	+	Rare	+	5
NF1	NF1	5	−	−	−	11
PGL1	SDHD	+	+	+	+	~5
PGL2	SDHAF2	−	−	+	+	Not known
PGL3	SDHC	−	Rare	+	−	Not known
PGL4	SDHB	Rare	+	Rare	+	~40
PGL5	SDHA	−	+	−	Not known	Not known
TMEM127 mutation carriers	TMEM127	100	−	−	+	~5
MAX mutation carriers	MAX	100	+	Extremely rare	+	~10

PCCs: pheochromocytomas; PGL: paragangliomas; +: present; −: absent.