Identification of novel missense mutation in a patient with an asymptomatic para-aortic paraganglioma

BMJ Case Rep. 2021 Oct 18;14(10):e245427. doi: 10.1136/bcr-2021-245427.

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.

Keywords: endocrinology; genetic screening / counselling.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adrenal Gland Neoplasms* / diagnostic imaging
  • Adrenal Gland Neoplasms* / genetics
  • Adrenal Gland Neoplasms* / surgery
  • Adult
  • Female
  • Genetic Testing
  • Humans
  • Mutation, Missense
  • Paraganglioma* / diagnostic imaging
  • Paraganglioma* / genetics
  • Paraganglioma* / surgery
  • Pheochromocytoma* / diagnostic imaging
  • Pheochromocytoma* / genetics
  • Pheochromocytoma* / surgery