One genotype, many phenotypes: SDHB p.R90X mutation-associated paragangliomas.
Ali S Alzahrani1,2, Meshael Alswailem3, Yosra Moria4
1Department of Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia. aliz@kfshrc.edu.sa.
Endocrine
|August 18, 2020
Summary
The SDHB p.R90X mutation, common in pheochromocytoma/paraganglioma (PPGL), shows significant variability. This mutation is linked to a high risk of metastasis and mortality in affected patients.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- The SDHB p.R90X germline mutation is a frequent genetic driver in pheochromocytoma/paraganglioma (PPGL).
- Understanding the clinical spectrum of this mutation is crucial for patient management.
Purpose of the Study:
- To investigate the clinical and pathological features of PPGL associated with the SDHB p.R90X mutation.
- To analyze treatment responses and outcomes.
- To describe the phenotypic variability in patients with this mutation.
Main Methods:
- Retrospective review of clinical and pathological data.
- Analysis of phenotypic variability in 13 patients with SDHB p.R90X-associated PPGL.
Main Results:
- Significant phenotypic variability observed, even within families.
- High rates of distant metastasis (46%) and a family history of PPGL (30.8%).
- Poor outcomes, with 38.5% in remission after 4-9 years, and significant mortality (30.8%).
Conclusions:
- SDHB p.R90X-associated PPGL exhibits considerable phenotypic diversity.
- This mutation confers a substantial risk of distant metastasis and mortality.
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