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Multiple paragangliomas: a case report.

Vladislav S Pavlov1, Dmitry V Kalinin2, Elena N Lukyanova1

  • 1Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, 32 Vavilova str, Moscow, 119991, Russia.

BMC Medical Genomics
|September 19, 2020
PubMed
Summary

Multiple head and neck paragangliomas, including carotid and vagal types, were analyzed. A likely pathogenic SDHD gene variant was identified, suggesting its role in tumor development.

Keywords:
Carotid and vagal paragangliomasCase reportGermline and somatic mutationsHigh-throughput exome sequencingImmunohistochemistryMultiple paragangliomasSDHx

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Area of Science:

  • Oncology
  • Genetics
  • Neurosurgery

Background:

  • Carotid and vagal paragangliomas (CPGLs and VPGLs) are rare neuroendocrine tumors.
  • Multiple paragangliomas, affecting both carotid and vagal sites, represent 10-20% of head and neck cases.
  • The molecular basis of multiple paraganglioma development is not fully understood.

Observation:

  • A patient presented with bilateral CPGL and unilateral VPGL.
  • Tumors were diagnosed using CT and ultrasound, followed by surgical resection.
  • Immunostaining for succinate dehydrogenase (SDH) subunits and exome analysis were performed.

Findings:

  • A likely pathogenic germline variant in the SDHD gene was identified.
  • Individual tumors exhibited distinct likely pathogenic somatic variants.
  • The SDHD germline variant appears to drive the development of multiple paragangliomas.

Implications:

  • This finding highlights the genetic predisposition in multiple paraganglioma development.
  • Distinct somatic variants suggest unique molecular pathways for each tumor.
  • Further research into SDHD variants and somatic mutations is warranted for understanding paraganglioma pathogenesis.