Table 2.
SDH germline mutations in series of malignant adrenal (PHEO) or extra-adrenal (PGL) pheochromocytoma
| Tumor type | Number of cases | SDHB | SDHC | SDHD | References (population) |
|---|---|---|---|---|---|
| Malignant PHEO-PGL | 44 | 13–18 (30–41%) | n.d. | n.d. | Brouwers et al., 2006 (NIH – USA) 5 cases with genetic variants |
| Adrenal | 13 | 2 (15.4%) | |||
| Extra-adrenal | 29 | 16 (55.2%) | |||
| Uncertain | 2 | 0 (0%) | |||
| Malignant PHEO-PGL | 9 | 1 (11%) | n.d. | 0 | Isobe et al., 2007 (Japanese) |
| Adrenal | 5 | 0 | |||
| Extra-adrenal | 4 | 1 (25%) | |||
| Malignant PHEO-PGL | 28 | 6–7 (21–25%) | n.d. | 1–2 (3.6–7%) | Klein et al., 2008 (USA) 2 cases with genetic variants |
| Adrenal | 12 | 0 | 2 (16.7%) | ||
| Extra-adrenal | 16 | 7 (43.8) | 0 | ||
| Malignant PHEO-PGL | 88 | 20 (22.7%) | n.d. | 1 (1.1%) | Erlic et al., 2009 (European-American) |
| Malignant PHEO-PGL | 54 | 23 (42.6%) | n.d. | 0 | Amar et al., 2007 (French) |
| Syndromic | 5 | 2 (40%) | |||
| Sporadic | 49 | 21 (42.8%) | |||
| Adrenal | 29 | 7 (24.1%) | |||
| Extra-adrenal | 25 | 16 (64%) | |||
| Malignant PGL-HNPGL | 49 | 36 (73.5%) | 0 (0%) | 4 (8.2%) | Burnichon et al., 2009 (French) |
| Thoracic, abdominal, pelvis | 24 | 20 (83.3%) | 0 (0%) | 1 (4.1%) | |
| HNPGL | 11 | 6 (54.5%) | 0 (0%) | 0 (0%) | |
| Multiple tumors | 14 | 10 (71.4%) | 0 (0%) | 3 (21.4%) | |
| Malignant HNPGL | 33 | 13 (39.4%) | 0 (0%) | 9 (27.3%) | Neumann et al., 2009 (55% German, 45% other countries) |
| Total malignant PHEO/PGLs | 305 | 112/305 (36.7%) | 15/261 (5.7%) | combined data |
Data on the prevalence of SDH germline mutations among malignant PHEOs/PGLs have been derived from 7 studies giving a general frequency of 42.4% with a marked predominance of SDHB mutations. In two studies, together with deleterious mutations, n.d. = Analysis not done.