Table 1.
Clinical presentation of patients included in the study
| Clinical data | All index cases with SDHB variant (n=737) | Index cases with (likely) pathogenic SDHB variant (n=614) | |
| Number and location of tumours | Single PPGL | 618 (84.5%) | 514 (84.3%) |
| Single headandneck PGL | 213 (44.8%) | 171 (44.5%) | |
| Single TAP-PGL | 184 (38.7%) | 166 (43.2%) | |
| Single PCC | 78 (16.4%) | 47 (12.2%) | |
| Location not specified | 143 | 130 | |
| Multiple PPGL | 103 (14.1%) | 89 (14.6%) | |
| RCC only | 8 (1.1%) | 5 (0.8%) | |
| GIST only | 2 (0.3%) | 2 (0.3%) | |
| Number and location of tumours not specified | 6 | 4 | |
| Benign/metastatic status | Metastatic disease | 133 (35.8%) | 122 (40%) |
| Benign disease | 238 (64.2%) | 183 (60%) | |
| Metastatic status not specified | 366 | 309 | |
| Familial/Sporadic presentation | Family history | 159 (29.8%) | 142 (33.1%) |
| No family history | 374 (70.2%) | 287 (66.9%) | |
| Family history not specified | 204 | 185 | |
GIST, gastrointestinal stromal tumour; PCC, pheochromocytoma; PGL, paraganglioma; PPGL, paraganglioma/pheochromocytoma; RCC, renal cell carcinoma; TAP-PGL, thoracic, abdominal or pelvic PGL.