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Łoń I, Kunikowska J, Jędrusik P, et al. Familial SDHB gene mutation in disseminated non-hypoxia-related malignant paraganglioma treated with [. Intractable Rare Dis Res. 2021;10(3):207-213doi: 10.5582/irdr.2021.01047.
Łoń, I., Kunikowska, J., Jędrusik, P., Góra, J., Toutounchi, S., Placha, G., & Gaciong, Z. (2021). Familial SDHB gene mutation in disseminated non-hypoxia-related malignant paraganglioma treated with [. Intractable & rare diseases research, 10(3), 207-213. https://doi.org/10.5582/irdr.2021.01047
Łoń, Izabela, et al. "Familial SDHB gene mutation in disseminated non-hypoxia-related malignant paraganglioma treated with [." Intractable & rare diseases research vol. 10,3 (2021): 207-213. doi: https://doi.org/10.5582/irdr.2021.01047
Łoń I, Kunikowska J, Jędrusik P, Góra J, Toutounchi S, Placha G, Gaciong Z. Familial SDHB gene mutation in disseminated non-hypoxia-related malignant paraganglioma treated with [. Intractable Rare Dis Res. 2021 Aug;10(3):207-213. doi: 10.5582/irdr.2021.01047. PMID: 34466344; PMCID: PMC8397825.
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Intractable Rare Dis Res. 2021 Aug;10(3):207-213. doi: 10.5582/irdr.2021.01047.

Familial SDHB gene mutation in disseminated non-hypoxia-related malignant paraganglioma treated with [.

Intractable & rare diseases research

Izabela Łoń, Jolanta Kunikowska, Piotr Jędrusik, Jarosław Góra, Sadegh Toutounchi, Grzegorz Placha, Zbigniew Gaciong

Affiliations

  1. Department of Internal Medicine, Hypertension and Vascular Diseases, Medical University of Warsaw, Warsaw, Poland.
  2. Department of Nuclear Medicine, Medical University of Warsaw, Warsaw, Poland.
  3. Department of General and Endocrine Surgery, Medical University of Warsaw, Warsaw, Poland.

PMID: 34466344 PMCID: PMC8397825 DOI: 10.5582/irdr.2021.01047

Abstract

Familial paraganglioma may be related to mutations in succinate dehydrogenase (SDH) enzyme complex genes. Among patients with hereditary paraganglioma, SDH subunit B (SDHB) gene mutations are associated with the highest morbidity and mortality related to a higher malignancy rate. We report a family with the c.689G>A (p.Arg230His) mutation in the SDHB gene identified in two family members, a father and his daughter. While the 14-year-old daughter had no evidence of clinical disease, recurrent and later disseminated [

2021, International Research and Cooperation Association for Bio & Socio - Sciences Advancement.

Keywords: catecholamine-producing tumor; positron emission tomography/computed tomography; somatostatin receptor imaging; succinate dehydrogenase

Conflict of interest statement

The authors have no conflicts of interest to disclose.

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