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Case Report of a Prolactinoma in a Patient With a Novel MAX Mutation and Bilateral Pheochromocytomas

Pheochromocytomas are neuroendocrine tumors that can arise sporadically or be inherited as a familial disease, and they may occur in isolation or as part of a multitumor syndrome. Familial disease typically presents in younger patients with a higher risk of multifocality. Recently, the tumor suppres...

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Autores principales: Roszko, Kelly Lauter, Blouch, Erica, Blake, Michael, Powers, James F., Tischler, Arthur S., Hodin, Richard, Sadow, Peter, Lawson, Elizabeth A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5686672/
https://www.ncbi.nlm.nih.gov/pubmed/29264463
http://dx.doi.org/10.1210/js.2017-00135
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author Roszko, Kelly Lauter
Blouch, Erica
Blake, Michael
Powers, James F.
Tischler, Arthur S.
Hodin, Richard
Sadow, Peter
Lawson, Elizabeth A.
author_facet Roszko, Kelly Lauter
Blouch, Erica
Blake, Michael
Powers, James F.
Tischler, Arthur S.
Hodin, Richard
Sadow, Peter
Lawson, Elizabeth A.
author_sort Roszko, Kelly Lauter
collection PubMed
description Pheochromocytomas are neuroendocrine tumors that can arise sporadically or be inherited as a familial disease, and they may occur in isolation or as part of a multitumor syndrome. Familial disease typically presents in younger patients with a higher risk of multifocality. Recently, the tumor suppressor MYC-associated factor X (MAX) gene has been implicated as a cause of familial isolated pheochromocytoma and paraganglioma. We describe a patient with a pituitary prolactinoma and bilateral pheochromocytomas who tested positive for a germline MAX mutation. Interestingly, the patient also had mild primary hyperparathyroidism that resolved upon resection of the pheochromocytomas despite the absence of parathyroid hormone staining in the tumors. To our knowledge, this case is the first report of prolactinoma in a patient with a MAX mutation, which suggests the possibility of germline MAX mutations also contributing to the development of prolactinomas.
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spelling pubmed-56866722017-12-20 Case Report of a Prolactinoma in a Patient With a Novel MAX Mutation and Bilateral Pheochromocytomas Roszko, Kelly Lauter Blouch, Erica Blake, Michael Powers, James F. Tischler, Arthur S. Hodin, Richard Sadow, Peter Lawson, Elizabeth A. J Endocr Soc Case Report Pheochromocytomas are neuroendocrine tumors that can arise sporadically or be inherited as a familial disease, and they may occur in isolation or as part of a multitumor syndrome. Familial disease typically presents in younger patients with a higher risk of multifocality. Recently, the tumor suppressor MYC-associated factor X (MAX) gene has been implicated as a cause of familial isolated pheochromocytoma and paraganglioma. We describe a patient with a pituitary prolactinoma and bilateral pheochromocytomas who tested positive for a germline MAX mutation. Interestingly, the patient also had mild primary hyperparathyroidism that resolved upon resection of the pheochromocytomas despite the absence of parathyroid hormone staining in the tumors. To our knowledge, this case is the first report of prolactinoma in a patient with a MAX mutation, which suggests the possibility of germline MAX mutations also contributing to the development of prolactinomas. Endocrine Society 2017-10-23 /pmc/articles/PMC5686672/ /pubmed/29264463 http://dx.doi.org/10.1210/js.2017-00135 Text en Copyright © 2017 Endocrine Society https://creativecommons.org/licenses/by-nc-nd/4.0/ This article has been published under the terms of the Creative Commons Attribution Non-Commercial, No-Derivatives License (CC BY-NC-ND; https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Roszko, Kelly Lauter
Blouch, Erica
Blake, Michael
Powers, James F.
Tischler, Arthur S.
Hodin, Richard
Sadow, Peter
Lawson, Elizabeth A.
Case Report of a Prolactinoma in a Patient With a Novel MAX Mutation and Bilateral Pheochromocytomas
title Case Report of a Prolactinoma in a Patient With a Novel MAX Mutation and Bilateral Pheochromocytomas
title_full Case Report of a Prolactinoma in a Patient With a Novel MAX Mutation and Bilateral Pheochromocytomas
title_fullStr Case Report of a Prolactinoma in a Patient With a Novel MAX Mutation and Bilateral Pheochromocytomas
title_full_unstemmed Case Report of a Prolactinoma in a Patient With a Novel MAX Mutation and Bilateral Pheochromocytomas
title_short Case Report of a Prolactinoma in a Patient With a Novel MAX Mutation and Bilateral Pheochromocytomas
title_sort case report of a prolactinoma in a patient with a novel max mutation and bilateral pheochromocytomas
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5686672/
https://www.ncbi.nlm.nih.gov/pubmed/29264463
http://dx.doi.org/10.1210/js.2017-00135
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