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Identification of novel missense mutation in a patient with an asymptomatic para-aortic paraganglioma
  1. Salah Daghlas1,
  2. Rajani Gundluru1,
  3. Ayman Nada2 and
  4. Uzma Khan1
  1. 1Department of Endocrinology, University of Missouri System, Columbia, Missouri, USA
  2. 2Radiology Department, University of Missouri System, Columbia, Missouri, USA
  1. Correspondence to Dr Ayman Nada; anada{at}health.missouri.edu

Abstract

A 31-year-old Caucasian woman underwent a standard workup as a potential kidney transplant donor. Kidney donor protocol CT showed a left para-aortic hypervascular mass suspicious for a paraganglioma. Biochemical workup revealed elevated urinary catecholamines, supporting this suspicion. The patient underwent surgical resection with histopathological evaluation that confirmed the diagnosis. Endocrine evaluation 2 years later revealed a family history of a cousin with a history of pheochromocytoma as a teenager. A genetic panel identified a missense mutation in succinate dehydrogenase C (c.202T>C; p.Ser68Pro), which was described as a variant of unknown significance. In silico analysis suggested that it may be a deleterious mutation. We concluded that this mutation may be pathogenic, considering these supporting pieces of evidence and her early-onset paraganglioma. This report highlights the importance of genetic screening in patients with paragangliomas/pheochromocytomas, since many cases are familial. Additionally, it underscores the importance of evaluating and documenting cases of variants of unknown significance.

  • genetic screening / counselling
  • endocrinology

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Footnotes

  • Presented at An abstract presented at American Society of Clinical Endcrinology (AACE).

  • Contributors SD and RG conceived of the presented idea. SD developed the theory and wrote the manuscript with support from RG performed the computations. AN and UK provided critical feedback and helped shape the research. All authors reviewed and contributed to the final manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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