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One genotype, many phenotypes: SDHB p.R90X mutation-associated paragangliomas.

Ali S Alzahrani1,2, Meshael Alswailem3, Yosra Moria4

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|August 18, 2020
PubMed
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.

Keywords:
GenotypeMutationParagangliomaPhenotypeSDHBSDHx

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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.