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Case Report: Pheochromocytoma and Synchronous Neuroblastoma in a Family With Hereditary Pheochromocytoma Associated With a MAX Deleterious Variant

2021-03Journal article Open access
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dc.contributor.authorDuarte, Diana Borges
dc.contributor.authorFerreira, Lia
dc.contributor.authorSantos, Ana P.
dc.contributor.authorCosta, Cláudia
dc.contributor.authorLima, Jorge
dc.contributor.authorSantos, Catarina
dc.contributor.authorAfonso, Mariana
dc.contributor.authorTeixeira, Manuel R.
dc.contributor.authorCarvalho, Rui
dc.contributor.authorCardoso, Helena
dc.date.accessioned2024-01-30T13:42:07Z
dc.date.available2024-01-30T13:42:07Z
dc.date.issued2021-03
dc.description.abstractIntroduction: Pheochromocytomas are rare catecholamine-producing neuroendocrine tumours arising from chromaffin cells of the adrenal medulla or extra-adrenal sympathetic paraganglia. Recent studies have indicated that up to 40% of pheochromocytomas could be attributable to an inherited germline variant in an increasing list of susceptibility genes. Germline variants of the MYC-associated factor (MAX) gene have been associated with familial pheochromocytomas and paragangliomas with an autosomal dominant pattern of inheritance, a median age at onset of 33 years and an overall frequency estimated at 1.9%. We describe a deleterious MAX variant associated with hereditary pheochromocytoma in a family with four affected individuals. Case presentation: The first patient presented with bilateral pheochromocytoma in 1995; genetic testing was proposed to his oldest son, when he was diagnosed with a bilateral pheochromocytoma with a synchronous neuroblastoma. Upon the identification of the MAX variant c.97C>T, p.(Arg33Ter), in the latter individual, his two siblings and their father were tested and the same variant was identified in all of them. Both siblings were subsequently diagnosed with pheochromocytoma (one of them bilateral) and choose to remain on active surveillance before they were submitted to adrenalectomy. All the tumours secreted predominantly norepinephrine, accordingly to the typical biochemical phenotype ascribed to variants in the MAX gene. Conclusion: This case series is, to our knowledge, the one with the largest number of individuals with hereditary pheochromocytoma with a deleterious MAX variant in the same family. It is also the first case with a synchronous pheochromocytoma and neuroblastoma in carriers of a MAX deleterious variant. This report draws attention to some ill-defined features of pheochromocytoma and other malignancies associated with a MAX variant and highlights the importance of understanding the genotype-phenotype correlation in hereditary pheochromocytoma and the impact of oriented genetic testing to detect, survey and treat patients and kindreds at risk.pt_PT
dc.description.versionN/Apt_PT
dc.identifier.citationDuarte DB, Ferreira L, Santos AP, et al. Case Report: Pheochromocytoma and Synchronous Neuroblastoma in a Family With Hereditary Pheochromocytoma Associated With a MAX Deleterious Variant. Front Endocrinol (Lausanne). 2021;12:609263. doi:10.3389/fendo.2021.609263pt_PT
dc.identifier.doi10.3389/fendo.2021.609263pt_PT
dc.identifier.issn1664-2392
dc.identifier.urihttp://hdl.handle.net/10400.16/2911
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherFrontiers Research Foundationpt_PT
dc.relation.publisherversionhttps://www.frontiersin.org/articles/10.3389/fendo.2021.609263/fullpt_PT
dc.subjectMAX genept_PT
dc.subjecthereditarypt_PT
dc.subjectneuroblastomapt_PT
dc.subjectparagangliomapt_PT
dc.subjectpheochromocytomapt_PT
dc.titleCase Report: Pheochromocytoma and Synchronous Neuroblastoma in a Family With Hereditary Pheochromocytoma Associated With a MAX Deleterious Variantpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceSwitzerlandpt_PT
oaire.citation.titleFrontiers in Endocrinologypt_PT
oaire.citation.volume12pt_PT
person.familyNameDuarte
person.familyNameCardoso
person.givenNameDiana
person.givenNameMaria Helena
person.identifier1094737
person.identifier.ciencia-id0212-CE45-8889
person.identifier.orcid0000-0001-8910-6888
person.identifier.orcid0000-0002-9465-5918
person.identifier.ridP-6822-2017
person.identifier.scopus-author-id57222620371
person.identifier.scopus-author-id56817857700
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication3c67b620-3b54-4dec-8e4e-8deb70a73d20
relation.isAuthorOfPublicationa1dc4387-f35c-447a-be66-d81fc5fde281
relation.isAuthorOfPublication.latestForDiscoverya1dc4387-f35c-447a-be66-d81fc5fde281

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