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.
Subject(s)
Humans , Female , Aged , Pheochromocytoma/surgery , Pheochromocytoma/genetics , Pheochromocytoma/diagnostic imaging , Adrenal Gland Neoplasms/genetics , Adrenal Gland Neoplasms/diagnostic imaging , Germ-Line Mutation , Genetic Predisposition to Disease , Membrane Proteins/genetics , MutationABSTRACT
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.
