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

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Date
2025
Authors
Rebecca Klein
Ralf Clauberg
Tobias Goschzik
Julian P. Layer
Ursula Gies
Michael Hölzel
Ulrich Herrlinger
Andreas Waha
Torsten Pietsch
Gerrit H. Giele
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Abstract
Endolymphatic 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.
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CPP , Von Hippel-Lindau , ELST
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http://hdl.handle.net/10201/171972
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Histology and histopathology, Vol.40, Nº12, (2025)
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