A novel pathogenic variant in MAX-Associated pheochromocytoma

Objective: To describe a young woman with malignant pheochromocytoma related to a relatively novel pathogenic variant of MAX gene and to compare to previous case reports on MAX pathogenic variants. Case report: A 19-year-old patient with a history of norepinephrine-secreting pheochromocytoma resecte...

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Autores principales:	Jeremy R. Steinman, Martha H. Thomas, Christopher R. McCartney, Shetal H. Padia
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Pheochromocytoma Gene Variant Paraganglioma MAX Diseases of the endocrine glands. Clinical endocrinology RC648-665
Acceso en línea:	https://doaj.org/article/a45e29bb6938470b9fe8e640b4d7610e
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spelling	oai:doaj.org-article:a45e29bb6938470b9fe8e640b4d7610e2021-11-10T04:27:30ZA novel pathogenic variant in MAX-Associated pheochromocytoma2214-624510.1016/j.jecr.2021.100101https://doaj.org/article/a45e29bb6938470b9fe8e640b4d7610e2021-12-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2214624521000241https://doaj.org/toc/2214-6245Objective: To describe a young woman with malignant pheochromocytoma related to a relatively novel pathogenic variant of MAX gene and to compare to previous case reports on MAX pathogenic variants. Case report: A 19-year-old patient with a history of norepinephrine-secreting pheochromocytoma resected at age 11 presented to our clinic with symptoms and biochemical evaluation concerning for recurrence. After confirmation of recurrence, 3 metastatic lymph nodes were successfully resected. Genetic testing disclosed a pathogenic germline MAX variant c.22G > T. Her sister and father were found to harbor the same variant, but her paternal grandparents did not. Her sister had a baseline MRI and plasma metanephrines that were both normal. Discussion: As whole gene panels are used more frequently for evaluation of hereditary pheochromocytomas, it is important to understand the different clinical phenotypes and natural histories that can be associated with each MAX variant. Our patient presented at a younger age than any other MAX-associated pheochromocytoma, possibly due to her variant translating an early stop codon and encoding a more dysfunctional protein. Available case reports suggest that 98% of MAX-associated pheochromocytomas are functional, which may inform screening procedures. Conclusion: Clinicians should be aware of MAX-associated pheochromocytomas and how they may differ from other hereditary pheochromocytoma syndromes. For asymptomatic individuals with a MAX pathogenic variant, screening with plasma metanephrines without imaging may be a cost-effective and patient-centered approach.Jeremy R. SteinmanMartha H. ThomasChristopher R. McCartneyShetal H. PadiaElsevierarticlePheochromocytomaGeneVariantParagangliomaMAXDiseases of the endocrine glands. Clinical endocrinologyRC648-665ENJournal of Clinical and Translational Endocrinology Case Reports, Vol 22, Iss , Pp 100101- (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Pheochromocytoma Gene Variant Paraganglioma MAX Diseases of the endocrine glands. Clinical endocrinology RC648-665
spellingShingle	Pheochromocytoma Gene Variant Paraganglioma MAX Diseases of the endocrine glands. Clinical endocrinology RC648-665 Jeremy R. Steinman Martha H. Thomas Christopher R. McCartney Shetal H. Padia A novel pathogenic variant in MAX-Associated pheochromocytoma
description	Objective: To describe a young woman with malignant pheochromocytoma related to a relatively novel pathogenic variant of MAX gene and to compare to previous case reports on MAX pathogenic variants. Case report: A 19-year-old patient with a history of norepinephrine-secreting pheochromocytoma resected at age 11 presented to our clinic with symptoms and biochemical evaluation concerning for recurrence. After confirmation of recurrence, 3 metastatic lymph nodes were successfully resected. Genetic testing disclosed a pathogenic germline MAX variant c.22G > T. Her sister and father were found to harbor the same variant, but her paternal grandparents did not. Her sister had a baseline MRI and plasma metanephrines that were both normal. Discussion: As whole gene panels are used more frequently for evaluation of hereditary pheochromocytomas, it is important to understand the different clinical phenotypes and natural histories that can be associated with each MAX variant. Our patient presented at a younger age than any other MAX-associated pheochromocytoma, possibly due to her variant translating an early stop codon and encoding a more dysfunctional protein. Available case reports suggest that 98% of MAX-associated pheochromocytomas are functional, which may inform screening procedures. Conclusion: Clinicians should be aware of MAX-associated pheochromocytomas and how they may differ from other hereditary pheochromocytoma syndromes. For asymptomatic individuals with a MAX pathogenic variant, screening with plasma metanephrines without imaging may be a cost-effective and patient-centered approach.
format	article
author	Jeremy R. Steinman Martha H. Thomas Christopher R. McCartney Shetal H. Padia
author_facet	Jeremy R. Steinman Martha H. Thomas Christopher R. McCartney Shetal H. Padia
author_sort	Jeremy R. Steinman
title	A novel pathogenic variant in MAX-Associated pheochromocytoma
title_short	A novel pathogenic variant in MAX-Associated pheochromocytoma
title_full	A novel pathogenic variant in MAX-Associated pheochromocytoma
title_fullStr	A novel pathogenic variant in MAX-Associated pheochromocytoma
title_full_unstemmed	A novel pathogenic variant in MAX-Associated pheochromocytoma
title_sort	novel pathogenic variant in max-associated pheochromocytoma
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/a45e29bb6938470b9fe8e640b4d7610e
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A novel pathogenic variant in MAX-Associated pheochromocytoma

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