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

José F. Delgado; María Javiera E. Pérez; Dasha Delgado; Carlos Lagos; René Baudrand; Thomas Uslar

doi:10.4067/S0034-98872022000801115

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

Translated title of the contribution: Bilateral pheochromocytoma associates with TMEM127 gene mutation. Report of one case

José F. Delgado^*, María Javiera E. Pérez, Dasha Delgado, Carlos Lagos, René Baudrand, Thomas Uslar

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

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.

Translated title of the contribution	Bilateral pheochromocytoma associates with TMEM127 gene mutation. Report of one case
Original language	Spanish
Pages (from-to)	1115-1118
Number of pages	4
Journal	Revista Medica de Chile
Volume	150
Issue number	8
DOIs	https://doi.org/10.4067/S0034-98872022000801115
State	Published - 2022

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© 2022 Sociedad Medica de Santiago. All rights reserved.

ASJC Scopus subject areas

General Medicine

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title = "Reporte de caso de feocromocitoma bilateral asociado a mutaci{\'o}n del gen TMEM127. Primer caso chileno",

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.",

keywords = "Adrenal Incidentaloma, human, Mutation, Pheochromocytoma, TMEM127 protein",

author = "Delgado, {Jos{\'e} F.} and P{\'e}rez, {Mar{\'i}a Javiera E.} and Dasha Delgado and Carlos Lagos and Ren{\'e} Baudrand and Thomas Uslar",

year = "2022",

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language = "Spanish",

volume = "150",

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AU - Delgado, José F.

AU - Pérez, María Javiera E.

AU - Delgado, Dasha

AU - Lagos, Carlos

AU - Baudrand, René

AU - Uslar, Thomas

PY - 2022/8

Y1 - 2022/8

N2 - 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.

AB - 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.

KW - Adrenal Incidentaloma

KW - human

KW - Mutation

KW - Pheochromocytoma

KW - TMEM127 protein

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SN - 0034-9887

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EP - 1118

JO - Revista Medica de Chile

JF - Revista Medica de Chile

IS - 8

ER -

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

Abstract

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