Reporte de caso de feocromocitoma bilateral asociado a mutación del gen TMEM127. Primer caso chileno

• Autores: José F. Delgado, María Javiera Pérez E., Dasha Delgado, Carlos Lagos, René Baudrand, Thomas Uslar
• Localización: Revista Médica de Chile, ISSN-e 0034-9887, Vol. 150, Nº. 8, 2022, págs. 1115-1118
• Idioma: español
• Títulos paralelos:
  • Bilateral pheochromocytoma associates with TMEM127 gene mutation. Report of one case
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• Resumen

  • 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.