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<p>Paragangliomas are neuroendocrine tumors arising from chromaffin cells within the parasympathetic or sympathetic nervous system. These types of tumors are significantly attributed to genetic mutations. Among these, mutations in the <i>SDHC</i> (succinate dehydrogenase complex subunit C) gene emerge as tumor suppressors, predisposing an individual to tumor development. This study examines a family with an <i>SDHC</i> mutation (<i>p.Arg133Ter</i>), where three members presented with rare mediastinal paragangliomas. Our analysis reveals that the tumor manifestation related to this genetic mutation varies greatly in location and age of onset, displaying a broad range of clinical presentations within the same family. This variability aligns with previous research showing different levels of tumor occurrence among individuals with <i>SDHC</i> mutations. The rarity of <i>SDHC</i> mutations and the resulting tumors, along with the variability in clinical manifestations, make it challenging to define a clear protocol for screening and ongoing monitoring of individuals with these genetic changes. By employing genetic sequencing and clinical assessments, we identified a link between the specific <i>SDHC</i> mutation and the appearance of mediastinal paragangliomas in the family, highlighting the genetic and clinical diversity associated with <i>SDHC</i> mutations. This emphasizes the need for tailored monitoring and treatment plans. These findings contribute to a more comprehensive understanding of the genetic and clinical characteristics of <i>SDHC</i>-associated paragangliomas, highlighting the importance of genetic counseling for at-risk families and emphasizing the complexities involved in the management of affected patients.</p>

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First Family with SDHC-Associated Mediastinal Paragangliomas in the Czech Republic

  • 期刊论文

  • 发表日期：

    2025年7月29日

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  • Barbora Hamplova,
  • Zdenek Musil,
  • Tomas Zelinka,
  • Jaroslava Duskova,
  • Jan Betka,
  • Jan Plzak,
  • Pavla Jencova,
  • Tatiana Vosecka,
  • Libor Staněk,
  • Anasuya Guha,
  • Vladimir Musil,
  • Ales Vicha

摘要

Paragangliomas are neuroendocrine tumors arising from chromaffin cells within the parasympathetic or sympathetic nervous system. These types of tumors are significantly attributed to genetic mutations. Among these, mutations in the SDHC (succinate dehydrogenase complex subunit C) gene emerge as tumor suppressors, predisposing an individual to tumor development. This study examines a family with an SDHC mutation (p.Arg133Ter), where three members presented with rare mediastinal paragangliomas. Our analysis reveals that the tumor manifestation related to this genetic mutation varies greatly in location and age of onset, displaying a broad range of clinical presentations within the same family. This variability aligns with previous research showing different levels of tumor occurrence among individuals with SDHC mutations. The rarity of SDHC mutations and the resulting tumors, along with the variability in clinical manifestations, make it challenging to define a clear protocol for screening and ongoing monitoring of individuals with these genetic changes. By employing genetic sequencing and clinical assessments, we identified a link between the specific SDHC mutation and the appearance of mediastinal paragangliomas in the family, highlighting the genetic and clinical diversity associated with SDHC mutations. This emphasizes the need for tailored monitoring and treatment plans. These findings contribute to a more comprehensive understanding of the genetic and clinical characteristics of SDHC-associated paragangliomas, highlighting the importance of genetic counseling for at-risk families and emphasizing the complexities involved in the management of affected patients.