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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Published in | Case reports in endocrinology Vol. 2019; no. 2019; pp. 1 - 5 |
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Main Authors | , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Cairo, Egypt
Hindawi Publishing Corporation
2019
Hindawi Hindawi Limited Wiley |
Subjects | |
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Abstract | 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. |
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AbstractList | 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.Arg29Leu
f
s
∗
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. 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. 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. |
Audience | Academic |
Author | Cameselle-Teijeiro, José Fernández-Pombo, Antía Flores-Ríos, Enrique Loidi, L. Baleato-Gonzalez, Sandra Puñal-Rodríguez, Jose A. Garrido-Pumar, Miguel Peinó-García, Roberto Araújo-Vilar, David Cabanas-Rodríguez, Paloma |
AuthorAffiliation | 1 Division of Endocrinology, University Clinical Hospital of Santiago de Compostela, Spain 2 UETeM-Molecular Pathology Group, Department of Medicine, IDIS-CIMUS, University of Santiago de Compostela, Spain 3 Division of Pathology, University Clinical Hospital of Santiago de Compostela, Spain 5 Fundación Galega de Medicina Xenómica, Santiago de Compostela, Spain 7 Division of Nuclear Medicine, University Clinical Hospital of Santiago de Compostela, Spain 4 Division of Surgery, University Clinical Hospital of Santiago de Compostela, Spain 8 Division of Radiology, University Clinical Hospital of Santiago de Compostela, Spain 6 Division of Pediatrics, University Clinical Hospital of Santiago de Compostela, Spain |
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Cites_doi | 10.1038/ng.533 10.1210/jc.2014-2473 10.1210/jc.2011-3360 10.1210/jc.2011-0114 10.1086/321282 10.1016/0895-7061(96)00057-x 10.1056/nejmoa020152 10.1373/clinchem.2010.153320 10.1001/jama.2010.1830 10.1007/s392-002-8376-8 10.1007/s12028-008-9105-8 10.1073/pnas.0136770100 10.1007/s00428-015-1755-2 10.1038/ng.861 |
ContentType | Journal Article |
Copyright | Copyright © 2019 Antía Fernández-Pombo et al. COPYRIGHT 2019 Hindawi Limited Copyright © 2019 Antía Fernández-Pombo et al. This is an open access article distributed under the Creative Commons Attribution License (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. http://creativecommons.org/licenses/by/4.0 Copyright © 2019 Antía Fernández-Pombo et al. 2019 |
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SubjectTerms | Adrenal glands Blood pressure Case Report Case reports Disease susceptibility Endocrinology Family medical history Genes Genetic aspects Hypertension Metabolism Mutation Neuroendocrine tumors NMR Nuclear magnetic resonance Patients Sinuses Tumors Urine |
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Title | Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation |
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