Outcomes of SDHB Pathogenic Variant Carriers
Authors' conclusion
Penetrance for PPGLs in SDHB PV carriers increases linearly with age. Affected carriers are at risk of developing and dying of metastatic disease, or of developing second tumors. Lifelong surveillance is appropriate.
Study context
- Population
- Carriers of germline SDHB pathogenic variants16 studies
- Outcome
- Penetrance of PPGLs in nonproband/nonindex SDHB PV carriers
Methodological detailsrandom-effects model (DerSimonian and Laird), PubMed, MEDLINE and EMBASE searched
- Random-effects model (DerSimonian and Laird)
- PubMed, MEDLINE and EMBASE searched
Pooled result
As reported in the abstract
By age 20
4%
95% CI 3%–6%
By age 40
11%
95% CI 8%–15%
By age 60
24%
95% CI 19%–31%
By age 80
35%
95% CI 25%–47%
Further pooled results
Lifetime risk of metastatic disease, nonproband/nonindex carriers with pheochromocytomas and paragangliomas (PPGLs) · per lifetime
- Overall risk of metastatic disease
- 9% (95%, CI 5%-16%)
Risk of second tumor, all affected cases (proband/index and nonproband/nonindex)
- Risk of second tumor
- 24% (95% CI, 18%-31%)
All-cause mortality, all affected cases · 5-year
- All-cause 5-year mortality
- 18% (95% CI, 6%-40%)
Original publication
Outcomes of SDHB Pathogenic Variant Carriers. J Clin Endocrinol Metab. Published 12 April 2024. doi:10.
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