Table 1.

SDH germline mutations in series of sporadic or unselected patients with adrenal (PHEO) or extra-adrenal (PGL) pheochromocytoma

Tumor type	Number of cases	SDHB	SDHC	SDHD	References (population)
Sporadic PHEO-PGL	24	2 (8.3%)	0	0	Astuti et al., 2001 (English)
Sporadic PHEO-PGL 14 adrenal, 4 extra-adrenal	18	n.d.	n.d.	2 (11.1%)	Gimm et al., 2000 (German)
Sporadic PHEO-PGL	271	12 (4.4%)	n.d.	11 (4%)	Neumann et al., 2002 (German, Polish)
Adrenal	241	6 (2.5%)		7 (2.9%)
Extra-adrenal	30	6 (20%)		4 (13.3%)
Multiple tumours	26	0 (0%)		4 (15.4%)
Sporadic PHEO-PGL	304	16 (5.3%)	neg	13 (4.3%)	Neumann et al., 2004 (German, Polish)
Sporadic PHEO-PGL	371	21 (5.7%)	0	21 (5.7%)	Schiavi et al., 2005 (German, Polish and other countries)
Sporadic PHEO-PGL including multiple tumors	947	59 (6.2%)	neg	25 (2.6%)	Erlic et al., 2009 (European-American)
Sporadic PHEO-PGL	84	8 (9.5%)	n.d.	0	Gimenez-Roqueplo et al., 2003 (French)
Adrenal	69	3 (4.3%)
Adrenal benign	57	1 (1.7%)
Adrenal malignant	12	2 (16.7)
Extra-adrenal	15	5 (33.3%)
Sporadic PHEO-PGL	258	18 (7%)	0	3 (1.2%)	Amar et al., 2005 (French)
Sporadic PGL >35 years, benign	40	6 (15%)	0	0	Burnichon et al., 2009 (French)
Sporadic PHEO-PGL	213	1/47 (2%)	n.d.	2/126 (1.6%)	Korpershoek et al., 2006 (Dutch)
Sporadic PHEO-PGL	18	0	0	0	Persu et al., 2008 (Belgian)
PHEO collected anonymously	35	1 (2.8%)	n.d.	2 (5.7%)	Cascòn et al., 2004 (Spanish)
Sporadic PHEO-PGL single tumors	119	12 (10%)	0	3 (2.2%)	Cascòn et al., 2009 (Spanish)
Adrenal	95	2 (2.1%)	0	0
Extra-adrenal	24	10 (41.6%)	0	1 (4.2%)

Data on the prevalence of SDH germline mutations in sporadic non-syndromic PHEOs/PGLs have been derived from 13 studies in which the family history was clearly indicated. n.d. = Analysis not done.