SomaticIDH1Hotspot Variants in Chinese Patients With Pheochromocytomas and Paragangliomas
Authors' conclusion
The somatic IDH1 hotspot variants cause PPGL development in some Chinese patients, especially among those apparently sporadic PGLs with a non-adrenergic phenotype and without mutations in major PPGL driver genes.
Study context
- Population
- Chinese patients with PPGLs from 2 tertiary-care centers in China; plus 50 UBPGL cases (29 from main cohort, 21 from other centers) and 2 additional IDH1-variant cases for phenotype summarymain cohort
- Participants
- 1,141 patients
- Outcome
- Prevalence of somatic IDH1 hotspot variants (tumor DNA next-generation sequencing)
Methodological detailsretrospective, 2 tertiary-care centres
- Retrospective
- 2 tertiary-care centres
Main finding
As reported in the abstract
IDH1 hotspot variants, main cohort
Overall prevalence in main cohort
0.5%
6/1141
Observational data: associations, not effects.
Further findings
IDH1 variants in PPGLs without mutations in 15 common driver genes
- Prevalence
- 0.9% (4/455)
IDH1 variants in paraganglioma (PGL) without mutations
- Prevalence
- 4.7% (4/86)
IDH1 hotspot variants in urinary bladder paragangliomas (UBPGLs)
- Prevalence
- 8% (4/50)
Phenotype of patients with IDH1 hotspot variants
- Patients with IDH1 hotspot variants (9 PGLs, 1 pheochromocytoma)
- 10
- Females with concurrent EPAS1 hotspot variants
- 3
- Patients with biochemical data, all non-adrenergic phenotype
- 3
- All had apparently sporadic tumors, without metastasis or recurrence
Original publication
SomaticIDH1Hotspot Variants in Chinese Patients With Pheochromocytomas and Paragangliomas. J Clin Endocrinol Metab. Published 10 November 2022. doi:10.
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