Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation

Phaeochromocytomas and paragangliomas are rare catecholamine-secreting tumours arising from the adrenal medulla or sympathetic paraganglia. It is known that 20-30% of all cases occur as a result of germline variants in several well known genes. The TMEM127 gene was recently identified as a new phaeo...

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Authors: Fernández Pombo, Antía, Cameselle Teijeiro, Jose Manuel, Puñal Rodríguez, José A., Loidi Fernández, Lourdes, Peinó García, Roberto, Cabanas Rodríguez, Paloma, Garrido Pumar, Miguel, Baleato Gonzalez, Sandra, Flores Ríos, Enrique, Araujo Vilar, David
Format: article
Publication Date:2019
Country:España
Institution:Servizo Galego de Saúde (SERGAS)
Repository:RUNA. Repositorio da Consellería de Sanidade e Sergas
OAI Identifier:oai:runa.sergas.gal:20.500.11940/15763
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6855059/pdf/CRIE2019-2502174.pdf
https://www.ncbi.nlm.nih.gov/pubmed/31781416
http://hdl.handle.net/20.500.11940/15763
Access Level:Open access
Keyword:FPGMX
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IDIS
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spelling Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical PresentationFernández Pombo, AntíaCameselle Teijeiro, Jose ManuelPuñal Rodríguez, José A.Loidi Fernández, LourdesPeinó García, RobertoCabanas Rodríguez, PalomaGarrido Pumar, MiguelBaleato Gonzalez, SandraFlores Ríos, EnriqueAraujo Vilar, DavidFPGMXCHUSIDISPhaeochromocytomas and paragangliomas are rare catecholamine-secreting tumours arising from the adrenal medulla or sympathetic paraganglia. It is known that 20-30% of all cases occur as a result of germline variants in several well known genes. The TMEM127 gene was recently identified as a new phaeochromocytoma susceptibility gene. However, until a larger sample of cases is available, the prevalence, genotype-phenotype correlation, and a clear predominant biochemical pattern of TMEM127-related PCC, remain to be defined. We present a woman with the pathogenic variant c.86delG (p.Arg29Leufs( *)52) in the TMEM127 gene, which has not been previously reported, associated to a bilateral phaeochromocytoma, with an uncommon initial clinical presentation and a biochemical profile that is distinctly adrenergic. Her two young children carry the same variant and are, at present, disease-free. Physicians should be aware that phaeochromocytoma can manifest in an atypical manner, as with episodic hypotension, mainly if the symptoms have no obvious aetiology and they worsen over time. This case also supports the presence of a predominant adrenaline secreting pattern in TMEM127-positive tumours, as well as the need to consider multigene panel testing in patients with bilateral phaeochromocytomas.2019info:eu-repo/semantics/articlehttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6855059/pdf/CRIE2019-2502174.pdfhttps://www.ncbi.nlm.nih.gov/pubmed/31781416http://hdl.handle.net/20.500.11940/15763reponame:RUNA. Repositorio da Consellería de Sanidade e Sergasinstname:Servizo Galego de Saúde (SERGAS)Ingléshttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:runa.sergas.gal:20.500.11940/157632026-06-12T08:40:47Z
dc.title.none.fl_str_mv Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation
title Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation
spellingShingle Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation
Fernández Pombo, Antía
FPGMX
CHUS
IDIS
title_short Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation
title_full Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation
title_fullStr Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation
title_full_unstemmed Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation
title_sort Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation
dc.creator.none.fl_str_mv Fernández Pombo, Antía
Cameselle Teijeiro, Jose Manuel
Puñal Rodríguez, José A.
Loidi Fernández, Lourdes
Peinó García, Roberto
Cabanas Rodríguez, Paloma
Garrido Pumar, Miguel
Baleato Gonzalez, Sandra
Flores Ríos, Enrique
Araujo Vilar, David
author Fernández Pombo, Antía
author_facet Fernández Pombo, Antía
Cameselle Teijeiro, Jose Manuel
Puñal Rodríguez, José A.
Loidi Fernández, Lourdes
Peinó García, Roberto
Cabanas Rodríguez, Paloma
Garrido Pumar, Miguel
Baleato Gonzalez, Sandra
Flores Ríos, Enrique
Araujo Vilar, David
author_role author
author2 Cameselle Teijeiro, Jose Manuel
Puñal Rodríguez, José A.
Loidi Fernández, Lourdes
Peinó García, Roberto
Cabanas Rodríguez, Paloma
Garrido Pumar, Miguel
Baleato Gonzalez, Sandra
Flores Ríos, Enrique
Araujo Vilar, David
author2_role author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv FPGMX
CHUS
IDIS
topic FPGMX
CHUS
IDIS
description Phaeochromocytomas and paragangliomas are rare catecholamine-secreting tumours arising from the adrenal medulla or sympathetic paraganglia. It is known that 20-30% of all cases occur as a result of germline variants in several well known genes. The TMEM127 gene was recently identified as a new phaeochromocytoma susceptibility gene. However, until a larger sample of cases is available, the prevalence, genotype-phenotype correlation, and a clear predominant biochemical pattern of TMEM127-related PCC, remain to be defined. We present a woman with the pathogenic variant c.86delG (p.Arg29Leufs( *)52) in the TMEM127 gene, which has not been previously reported, associated to a bilateral phaeochromocytoma, with an uncommon initial clinical presentation and a biochemical profile that is distinctly adrenergic. Her two young children carry the same variant and are, at present, disease-free. Physicians should be aware that phaeochromocytoma can manifest in an atypical manner, as with episodic hypotension, mainly if the symptoms have no obvious aetiology and they worsen over time. This case also supports the presence of a predominant adrenaline secreting pattern in TMEM127-positive tumours, as well as the need to consider multigene panel testing in patients with bilateral phaeochromocytomas.
publishDate 2019
dc.date.none.fl_str_mv 2019
dc.type.none.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6855059/pdf/CRIE2019-2502174.pdf
https://www.ncbi.nlm.nih.gov/pubmed/31781416
http://hdl.handle.net/20.500.11940/15763
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6855059/pdf/CRIE2019-2502174.pdf
https://www.ncbi.nlm.nih.gov/pubmed/31781416
http://hdl.handle.net/20.500.11940/15763
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.source.none.fl_str_mv reponame:RUNA. Repositorio da Consellería de Sanidade e Sergas
instname:Servizo Galego de Saúde (SERGAS)
instname_str Servizo Galego de Saúde (SERGAS)
reponame_str RUNA. Repositorio da Consellería de Sanidade e Sergas
collection RUNA. Repositorio da Consellería de Sanidade e Sergas
repository.name.fl_str_mv
repository.mail.fl_str_mv
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