Table 1

Clinical presentation of patients included in the study

Clinical dataAll index cases with SDHB variant (n=737)Index cases with (likely) pathogenic SDHB variant (n=614)
Number and location of tumoursSingle PPGL618 (84.5%)514 (84.3%)
Single headandneck PGL213 (44.8%)171 (44.5%)
Single TAP-PGL184 (38.7%)166 (43.2%)
Single PCC78 (16.4%)47 (12.2%)
Location not specified143130
Multiple PPGL103 (14.1%)89 (14.6%)
RCC only8 (1.1%)5 (0.8%)
GIST only2 (0.3%)2 (0.3%)
Number and location of tumours not specified64
Benign/metastatic statusMetastatic disease133 (35.8%)122 (40%)
Benign disease238 (64.2%)183 (60%)
Metastatic status not specified366309
Familial/Sporadic presentationFamily history159 (29.8%)142 (33.1%)
No family history374 (70.2%)287 (66.9%)
Family history not specified204185
  • GIST, gastrointestinal stromal tumour; PCC, pheochromocytoma; PGL, paraganglioma; PPGL, paraganglioma/pheochromocytoma; RCC, renal cell carcinoma; TAP-PGL, thoracic, abdominal or pelvic PGL.