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| Home > Publications database > Deciphering the molecular granularity of subependymomas and its distinction from posterior fossa ependymoma. |
| Home > Publications database > Deciphering the molecular granularity of subependymomas and its distinction from posterior fossa ependymoma. |
| Journal Article | DKFZ-2026-02820 |
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2026
Oxford Univ. Press
Oxford
Abstract: The CNS tumor classification of the WHO currently subsumes subependymomas (SE) of the supratentorial, infratentorial, and spinal compartment as one tumor type. Molecular data on SE are generally sparse, but SE are known to exhibit distinct global DNA methylation profiles according to their anatomical location. Previous studies indicate that a fraction of posterior fossa tumors exhibiting DNA methylation profiles of SE morphologically appear as ependymomas and may be prone to relapse.We assembled a cohort of ependymal tumors that best match supratentorial (n = 89), infratentorial (n = 146), or spinal (n = 45) SE DNA methylation profiles.Infratentorial tumors with an SE DNA methylation profile occurred at significantly higher ages with a male to female ratio of 4:1 and displayed two distinct subtypes. One of them (n = 49) was enriched for tumors that morphologically appear as ependymomas, carrying a loss of chromosome 6 as well as TERT promoter mutations. Respective patients showed a significantly shorter progression-free survival (p = 0.00014). Supratentorial SE frequently showed chromosome 8 loss while a small subset of tumors with a distinct DNA methylation profile and a segmentation of chromosome 6 was detected. Such chromosomal abnormalities were similarly observed in spinal SE.Based on clustering analysis and clinical features of tumors best matching a subependymoma methylation class, we postulate four subtypes of subependymomas. A fifth, previously undefined type of infratentorial ependymomas was provisionally named PFC. It showed frequent relapses but was distinct from PFA and PFB ependymomas.
Keyword(s): Chromosome 6 ; DNA methylation ; Ependymoma ; Subependymoma
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