[Bilateral pheochromocytoma associates with TMEM127 gene mutation. Report of one case]

Rev Med Chil. 2022 Aug;150(8):1115-1118. doi: 10.4067/S0034-98872022000801115.
[Article in Spanish]

Abstract

Up to 40% of Pheochromocytoma/paraganglioma syndromes are associated with germline mutations. Therefore, they are considered familial and heritable. We report a 65 year old woman with hypertension, bilateral adrenal nodules found in the CT scan and elevated urinary metanephrines. Her genetic testing showed a c.117_120delGTCT TMEM127 gene mutation. She was subjected to a laparoscopic bilateral adrenal excision. After five years of follow up, no recurrence of the disease has been recorded.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adrenal Gland Neoplasms* / diagnostic imaging
  • Adrenal Gland Neoplasms* / genetics
  • Aged
  • Female
  • Genetic Predisposition to Disease
  • Germ-Line Mutation
  • Humans
  • Membrane Proteins / genetics
  • Mutation
  • Pheochromocytoma* / diagnostic imaging
  • Pheochromocytoma* / genetics
  • Pheochromocytoma* / surgery

Substances

  • Membrane Proteins
  • TMEM127 protein, human