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Molecular characterization of a thymic neuroblastoma in an adult associated with inappropriate antidiuretic hormone secretion syndrome

2025-04Journal article Embargoed access
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datacite.subject.sdg03:Saúde de Qualidade
dc.contributor.authorLérias, Sofia
dc.contributor.authorCabrera, Rafael
dc.contributor.authorBranquinho-Ruivo, Leonor
dc.contributor.authorSaramago, Ana
dc.contributor.authorStoehr, Robert
dc.contributor.authorAgaimy, Abbas
dc.contributor.authorMartins, Carmo
dc.date.accessioned2025-08-01T09:51:24Z
dc.date.available2025-08-01T09:51:24Z
dc.date.issued2025-04
dc.description.abstractNeuroblastoma (NB) is extremely rare in adults, and anterior mediastinal location is even more unusual. We report a primary thymic NB in a 72-year-old male, who presented with the inappropriate antidiuretic hormone secretion (SIADH) syndrome. Molecular testing revealed copy number alterations of chromosome 3, i.e., loss of whole 3p and partial gain of distal 3q, including gain of copies of the PIK3CA gene. To the best of our knowledge, only five mediastinal NB cases in adults have been reported with genetic evaluation. One case showed loss of 3p material with SETD2 gene mutation and gain of PIK3CA gene, similar to our case. As thymic NB is extremely rare, reports of more genetically characterized cases should help to delineate their pathobiology and shed light on possible mechanisms involved in the associated SIADH syndrome.eng
dc.identifier.citationLérias S, Cabrera R, Branquinho-Ruivo L, Saramago A, Stoehr R, Agaimy A, Martins C. Molecular characterization of a thymic neuroblastoma in an adult associated with inappropriate antidiuretic hormone secretion syndrome. Virchows Arch. 2025 Apr 1. Epub ahead of print.
dc.identifier.doi10.1007/s00428-025-04085-7
dc.identifier.issn0945-6317
dc.identifier.issn1432-2307
dc.identifier.urihttp://hdl.handle.net/10400.21/22005
dc.language.isoeng
dc.peerreviewedyes
dc.publisherSpringer Science and Business Media LLC
dc.relation.hasversionhttps://link.springer.com/article/10.1007/s00428-025-04085-7
dc.relation.ispartofVirchows Archiv
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectNeuroblastoma
dc.subjectPIK3CA gene
dc.subjectNB
dc.subjectSIADH
dc.subjectThymus
dc.titleMolecular characterization of a thymic neuroblastoma in an adult associated with inappropriate antidiuretic hormone secretion syndromeeng
dc.typejournal article
dspace.entity.typePublication
oaire.citation.titleVirchows Archiv
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85

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