Table 2.
Summary of HRAS Mutation Studies in PPGL
| HRAS gene status | PPGL susceptibility gene | |||||||
|---|---|---|---|---|---|---|---|---|
| HRAS mutated | Codon 13 G13R | Codon 61 Q61R | Codon 61 Q61K | Codon 61 Q61L | Wild‐type codon 13/61 | Known mutation | Unknown mutation (sporadic) | |
| This study a | ||||||||
| PCC (n = 141) | 9 | 1 | 5 | 3 | 0 | 132 | 48 | 93 |
| PGL (n = 14) | 1 | 0 | 0 | 0 | 1 | 13 | 7 | 7 |
| Total (n = 155) | 10 | 1 | 5 | 3 | 1 | 145 | 55 | 100 |
| Moley et al. 1991 | ||||||||
| PCC (n = 10) | 0 | 0 | 0 | 0 | 0 | 10 | 0 | 10 |
| Total (n = 10) | 0 | 0 | 0 | 0 | 0 | 10 | 0 | 10 |
| Yoshimoto et al. 1992 | ||||||||
| PCC (n = 19) | 1 | 1 | 0 | 0 | 0 | 18 | 0 | 19 |
| Total (n = 19) | 1 | 1 | 0 | 0 | 0 | 18 | 0 | 19 |
| Crona et al. 2013 , b | ||||||||
| PCC (n = 72) | 3 | 1 | 1 | 1 | 0 | 69 | 22 | 50 |
| PGL (n = 9) | 1 | 0 | 1 | 0 | 0 | 8 | 3 | 6 |
| Total (n = 81) | 4 | 1 | 2 | 1 | 0 | 77 | 25 | 56 |
| Oudijk et al. 2013 | ||||||||
| PCC (n = 216) | 14 | 1 | 12 | 1 | 0 | 202 | 76 | 140 |
| PGL (n = 55) | 0 | 0 | 0 | 0 | 0 | 55 | 31 | 24 |
| Total (n = 271) | 14 | 1 | 12 | 1 | 0 | 257 | 107 | 164 |
| Luchetti et al. 2015 , c | ||||||||
| PCC (n = 60) | 6 | 1 | 5 | 0 | 0 | 54 | 16 | 44 |
| PGL (n = 5) | 0 | 0 | 0 | 0 | 0 | 5 | 0 | 5 |
| Total (n = 65) | 6 | 1 | 5 | 0 | 0 | 59 | 16 | 49 |
| Castro‐Vega et al. 2015 , d | ||||||||
| PCC (n = 168) | 10 | 1 | 4 | 2 | 0 | 158 | 100 | 68 |
| PGL (n = 25) | 0 | 0 | 0 | 0 | 0 | 25 | 16 | 9 |
| Total (n = 193) | 10 | 1 | 4 | 2 | 0 | 183 | 116 | 77 |
| de Cubas et al. 2015 | ||||||||
| PCC (n = 128) | 3 | 0 | 3 | 0 | 0 | 125 | 68 | 60 |
| PGL (n = 28) | 1 | 0 | 0 | 1 | 0 | 27 | 15 | 13 |
| Total (n = 156) | 4 | 0 | 3 | 1 | 0 | 152 | 83 | 73 |
| HRAS mutations in the eight studies | ||||||||
| PCC (n = 814) | 46 (5.7%) | 6 (0.7%) | 30 (3.7%) | 7 (0.9%) | 0 | 768 (94.3%) | 1/330 (0.3%) | 45/484 (9.3%) |
| PGL (n = 136) | 3 (2.2%) | 0 | 1 (0.7%) | 1 (0.7%) | 1 (0.7%) | 133 (97.8%) | 0/72 | 3/64 (4.7%) |
| Total (n = 950) | 49 (5.2%) | 6 (0.6%) | 31 (3.3%) | 8 (0.8%) | 1 (0.1%) | 901 (94.8%) | 1/402 (0.2%) | 48/548 (8.8%) |
a
One PCC with a Q61R HRAS mutation has been previously published (Juhlin et al., 2015) and is excluded.
b
One head and neck paraganglioma is excluded.
c
Twenty head and neck paragangliomas are excluded.
d
Six metastases and 3 thoracic paragangliomas are excluded. Three HRAS mutations from this study are not reported in the table: G12R (n = 1), S145L (n = 1), and A146T (n = 1).