Histological and molecular characterization of endolymphatic sac tumor reveals key differences from its primary differential diagnosis, choroid plexus papilloma

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dc.contributor.authorRebecca Klein
dc.contributor.authorRalf Clauberg
dc.contributor.authorTobias Goschzik
dc.contributor.authorJulian P. Layer
dc.contributor.authorUrsula Gies
dc.contributor.authorMichael Hölzel
dc.contributor.authorUlrich Herrlinger
dc.contributor.authorAndreas Waha
dc.contributor.authorTorsten Pietsch
dc.contributor.authorGerrit H. Giele
dc.contributor.authorLea L. Friker
dc.contributor.departmentBiología Celular e Histología
dc.date.accessioned2025-11-10T12:56:54Z
dc.date.available2025-11-10T12:56:54Z
dc.date.issued2025
dc.description.abstractEndolymphatic sac tumors (ELSTs) are rare, slow-growing neoplasms of the inner ear. Micro-scopically, they exhibit papillary-cystic and glandular histomorphology, closely resembling their primary differential diagnosis, choroid plexus papilloma (CPP). Through in-depth histological, immunohistochemical, and molecular analysis, we identified distinct characteristics of ELST that facilitate its identification and aid in differentiating it from CPP. Immunohisto-chemical staining that best discriminated between ELST and CPP included EMA, S-100 protein, EpCAM, cytokeratin, transthyretin, CD34, PTEN, PAX8, and YAP. In contrast to CPP, pan-cancer DNA panel next-generation sequencing frequently revealed pathogenic VHL gene alterations in ELST. In conclusion, comprehensive immunohistochemistry enhances the identification of this rare tumor type and helps prevent misdiagnosis. Furthermore, the detection of VHL gene alterations additionally supports the diagnosis of ELST.
dc.formatapplication/pdf
dc.format.extent9
dc.identifier.doihttps://doi.org/10.14670/HH-18-920
dc.identifier.eissn1699-5848
dc.identifier.issn0213-3911
dc.identifier.urihttp://hdl.handle.net/10201/171972
dc.languageeng
dc.relationSin financiacion externa a la Universidad
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International*
dc.rights.accessRightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.subjectCPP
dc.subjectVon Hippel-Lindau
dc.subjectELST
dc.subject.odsNo relacionado con ningún objetivo de desarrollo sostenible
dc.titleHistological and molecular characterization of endolymphatic sac tumor reveals key differences from its primary differential diagnosis, choroid plexus papilloma
dc.typeinfo:eu-repo/semantics/article
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Histology and histopathology, Vol.40, Nº12, (2025)