Table 2.
Gene-Specific Characteristics of Pediatric and Adult Patients With PPGLs
| Pediatric | Adult | P Value | |
|---|---|---|---|
| Cluster 1 mutations | |||
| VHL | 27.2% (25/92) | 10.2% (53/519) | <0.0001 |
| Metastatic | 12.0% (3/25) | 5.7% (3/53) | 0.3070 |
| Recurrent | 18.5% (5/25) | 5.7% (3/53) | 0.0730 |
| SDHBa | 39.1% (36/92) | 17.3% (90/519) | <0.0001 |
| Metastatic | 86% (31/36) | 68.9% (62/90) | 0.0350 |
| Recurrent | 19.4% (7/36) | 20.0% (18/90) | 0.5780 |
| SDHDa | 9.8% (9/92) | 10.6% (55/519) | 0.4660 |
| Metastatic | 33.3% (3/9) | 30.9% (17/55) | 0.5680 |
| Recurrent | 66.7% (6/9) | 58.2% (32/55) | 0.4380 |
| SDHA/Ca | 0% (0/92) | 1.2% (6/519) | — |
| Metastatic | — | 16.7% (1/6) | — |
| Recurrent | — | 0.0% (0/6) | — |
| Total for cluster 1 | 76.1% (70/92) | 39.3% (204/519) | <0.0001 |
| Metastatic | 52.9% (37/70) | 40.7% (83/204) | 0.0820 |
| Recurrent | 25.7% (18/70) | 26.0% (53/204) | 0.4340 |
| Cluster 2 mutations | |||
| RETa | 3.3% (3/92) | 8.9% (46/519) | 0.0270 |
| Metastatic | 0.0% (0/3) | 4.4% (2/46) | — |
| Recurrent | 66.7% (2/3) | 17.4% (8/46) | 0.0910 |
| NF1 | 1.1% (1/92) | 3.7% (19/519) | 0.1750 |
| Metastatic | 0.0% (0/1) | 5.2% (1/19) | — |
| Recurrent | 0.0% (0/1) | 10.5% (2/19) | — |
| MAX/TMEM127a | 0% (0/92) | 0.7% (4/519) | — |
| Metastatic | — | 25.0% (1/4) | — |
| Recurrent | — | 50.0% (2/4) | — |
| Total for cluster 2 | 4.3% (4/92) | 13.3% (69/519) | 0.0008 |
| Metastatic | 0% (0/4) | 5.8% (4/69) | — |
| Recurrent | 50.0% (2/4) | 17.4% (12/69) | 0.1420 |
a
Percentage is shown according to the total number of patients tested for germline mutations. For NF1, diagnosis was based on clinical manifestations and, for SDHA, TMEM127, and MAX, was restricted to limited patient numbers as described in Materials and Methods. Percentages of metastatic and recurrent disease are shown according to the particular mutated gene.