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Updated: Sep 30, 2026

Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells
Published on: August 25, 2021
[Bilateral pheochromocytoma associates with TMEM127 gene mutation. Report of one case]
José F Delgado1, María Javiera Pérez E1, Dasha Delgado2
1Facultad de Medicina, Complejo Asistencial Dr. Sótero del Río, Santiago, Chile.
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.
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