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Extracranial teratoid medulloepithelioma: a pelvic observation with genetic and epigenetic findings

In the latest version of the World Health Organization Classification (WHO) of Central Nervous System Tumors, the terminology "medulloepithelioma" has disappeared as a distinct tumor type in favor of "embryonal tumor with multilayered rosettes (ETMR)", characterized by frequent a...

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Auteurs principaux: Tauziède-Espariat, Arnault (Auteur) , Khneisser, Pierre (Auteur) , Berrebi, Dominique (Auteur) , Sievers, Philipp (Auteur) , Dangouloff-Ros, Volodia (Auteur) , Fresneau, Brice (Auteur) , Métais, Alice (Auteur) , Sassi, Farah (Auteur) , Filser, Mathilde (Auteur) , Servant, Euphrasie (Auteur) , Hasty, Lauren (Auteur) , Varlet, Pascale (Auteur)
Format: Article (Journal)
Langue:anglais
Publié: 12 March 2026
In: Virchows Archiv
Year: 2026, Pages: 1-4
ISSN:1432-2307
DOI:10.1007/s00428-026-04453-x
Accès en ligne:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/s00428-026-04453-x
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Notes sur l'auteur:Arnault Tauziède-Espariat, Pierre Khneisser, Dominique Berrebi, Philipp Sievers, Volodia Dangouloff-Ros, Brice Fresneau, Alice Métais, Farah Sassi, Mathilde Filser, Euphrasie Servant, Lauren Hasty, Pascale Varlet on behalf of the RENOCLIP-LOC
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Résumé:In the latest version of the World Health Organization Classification (WHO) of Central Nervous System Tumors, the terminology "medulloepithelioma" has disappeared as a distinct tumor type in favor of "embryonal tumor with multilayered rosettes (ETMR)", characterized by frequent alterations of C19MC. However, medulloepithelioma persists in the current WHO classification of eye tumors, where two variants exist (teratoid and non-teratoid), harboring frequent DICER1 mutations. DNA-methylation profiling has demonstrated that ETMR and intraocular medulloepitheliomas represented two distinct methylation classes. Outside the CNS and the eye, exceptional observations of medulloepitheliomas have been reported, most of them before the genetic and epigenetic eras. Herein, we report a pediatric case of a presacral tumor classified as a teratoid medulloepithelioma with genetic and epigenetic charaterizations. Using DNA-methylation profiling analysis, the tumor was classified between ETMR, non C19MC-altered, and intra-ocular medulloepithelioma, arguing for a potential distinct cell origin, not represented in the current epigenetic classifiers.
Description:Gesehen am 29.05.2026
Description matérielle:Online Resource
ISSN:1432-2307
DOI:10.1007/s00428-026-04453-x

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