Insights into the genetic landscape of pheochromocytomas and paragangliomas in a Brazilian cohort
Authors' conclusion
Our cohort of PPGLs demonstrated a high frequency of germline diagnoses. Additionally, our findings suggest CHEK2 and BRCA2 as potential susceptibility genes for PPGLs.
Study context
- Population
- Index patients with pheochromocytomas and paragangliomas (PPGLs) in a Brazilian cohort (116 females, 66 males; 118 pheochromocytoma and 70 paraganglioma cases)
- Participants
- 182 index patients
- Outcome
- Germline and somatic pathogenic or likely pathogenic variants in susceptibility genes
Methodological detailsSANGER sequencing, targeted next-generation sequencing panel and whole-exome sequencing
- SANGER sequencing, targeted next-generation sequencing panel and whole-exome sequencing
Main finding
As reported in the abstract
Germline P/LP variants
88
48.4%
Somatic P/LP variants
18
10.4%
SDHB most frequently affected gene
30 patients
16.5%
Germline SDHB exon 1 deletion among SDHB cases
46.7%
Observational data: associations, not effects.
Further findings
Germline diagnosis rate vs other cohorts
- Higher germline diagnosis rate in Brazilian cohort vs European (31%), American (27%) and Chinese (21%) cohorts
- P < 0.001
Germline variants in new susceptibility genes
- Germline variants in new susceptibility genes
- 5
- CHEK2 LP or P variants
- 3
- BRCA2 P variants
- 2
- Higher prevalence of CHEK2 P/LP variants vs global population databases
- P < 0.0001
- Higher prevalence of BRCA2 P/LP variants vs global population databases
- P = 0.0004
- CHEK2 immunostaining negative in the three tumors; one with CHEK2 loss of heterozygosity
- Variants unreported in the Brazilian genomic variant repository
Original publication
Insights into the genetic landscape of pheochromocytomas and paragangliomas in a Brazilian cohort. Eur J Endocrinol. Published 17 December 2024. doi:10.
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