Pheochromocytoma in von Hippel‐Lindau Disease: Clinical Features and Comparison With Sporadic Pheochromocytoma
Authors' conclusion
VHL disease-related PPGLs were often multifocal and noradrenergic, and more likely to relapse compared with sporadic PPGLs. No relationships were identified between the mutation sites and the clinical characteristics of PPGLs.
Study context
- Population
- Patients with von Hippel-Lindau (VHL) disease and pheochromocytomas and paragangliomas (PPGLs) treated in a single centre, 2007–2023
- Participants
- 59 vs 145
- Exposure
- VHL disease-related PPGLs vs sporadic PPGLs
- VHL PPGLsn = 59
- Sporadic PPGLsn = 145reference
- Outcome
- Clinical features of VHL-related PPGLs
Methodological detailssingle-centre, Clinical data retrospectively reviewed; VHL mutation testing by Sanger sequencing
- Single-centre
- Clinical data retrospectively reviewed; VHL mutation testing by Sanger sequencing
Main finding
As reported in the abstract
- VHL disease patients with PPGLs
- 59 (65.6%) of 90
- Age at diagnosis, years
- 25.0 ± 13.3
- Male: female
- 38:21
- Lesions only in adrenal gland
- 42 (71.2%)
- Lesions both in and out of adrenal gland
- 16 (27.1%)
- Multiple lesions
- 45 (76.3%)
- Recurrence after surgery
- 18 (45.0%)
Observational data: associations, not effects.
Further findings
Adrenal location
P < 0.001
Multiple lesions
P < 0.001
Noradrenaline secretion
P < 0.001
Relapse after surgery
P < 0.001
VHL genetic testing
- Underwent testing, all with pathogenic or likely pathogenic VHL mutations
- 58
- Missense mutations
- 53 (91.4%)
- Missense mutations in Elongin-C binding domain
- 34
- Hotspot mutation sites
- codon 161 and codon 167
- Novel mutations
- 5
- No significant differences in clinical characteristics between mutation-site groups
Original publication
Pheochromocytoma in von Hippel‐Lindau Disease: Clinical Features and Comparison With Sporadic Pheochromocytoma. Clin Endocrinol (Oxf). Published 25 December 2024. doi:10.
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