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A Case for Genetic Testing in Isolated Tympanic Paragangliomas.

Manu K Shrivastava1, John F Curran1, Fintan Sheerin2

  • 1Department of ENT, Oxford University Hospitals NHS Trust.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology
|July 8, 2022
PubMed
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Routine genetic testing for tympanic paraganglioma (PGL) is crucial. Two cases revealed SDHB gene variants, impacting patient management and surveillance for related tumors.

Area of Science:

  • Otolaryngology
  • Genetics
  • Oncology

Background:

  • Tympanic paraganglioma (PGL) is a rare tumor.
  • Genetic predisposition is often associated with PGL, but isolated cases without family history are increasingly recognized.

Purpose of the Study:

  • To highlight the necessity of routine genetic testing for all patients diagnosed with tympanic PGL.
  • To present two clinical cases of isolated tympanic PGL and their management outcomes.

Main Methods:

  • Review of two patients diagnosed with isolated tympanic PGL at a tertiary center.
  • Genetic testing for paraganglioma/pheochromocytoma predisposition genes, including the SDHB gene.
  • Clinical course evaluation and management implications based on genetic findings.

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Main Results:

  • Both patients were found to have a pathogenic variant in the SDHB gene post-surgery.
  • Disease recurrence, metastatic disease, and secretory disease complicated the clinical course in one patient.
  • Genetic status informed ongoing management, including annual MRI surveillance for SDH-related tumors.

Conclusions:

  • Routine genetic testing should be considered for all new tympanic PGL diagnoses.
  • Identifying genetic variants influences clinical management, follow-up strategies, and surveillance for associated conditions.