ArticleVirchows Archiv : an international journal of pathology2023
All pineal tumors expressing germ cell tumor markers are not necessarily germ cell tumors: histopathological and molecular study of a midline primary intracranial sarcoma DICER1-mutant.
Article in Virchows Archiv : an international journal of pathology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 5 citations in OpenAlex.
- Low-Level Cerebrospinal Fluid β-hCG Elevation in Patients with Pineal Parenchymal Tumors: A Four-Case Series and Diagnostic Caution.Journal of clinical medicine · 2026Article
- Mesenchymal Nonmeningothelial Tumors of the CNS: Evolving Molecular Landscape and Implications for Neuroradiologists.AJNR. American journal of neuroradiology · 2025Review
- Primary Intracranial Sarcomatoid Yolk Sac Tumor With Unique Histology: A Case Report.Case reports in pathology · 2025Article
- Imaging Features of Primary Intracranial Sarcoma withAJNR. American journal of neuroradiology · 2024Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary intracranial sarcoma DICER1-mutant is a rare and newly recognized tumor type introduced in the 2021 WHO Classification of Central Nervous System Tumors. It is defined as a spindle cell sarcoma dysplaying eosinophilic intracytoplasmic globules, myogenic differentiation, and DICER1 gene mutation, either somatic or germline. Most reported cases were hemispheric except one, recently described in the pineal region. Here, we report the case of a 12 year-old boy with a pineally located tumor. Despite midline location, poorly differenciated morphology and germ cell marker expression, the association of DICER1 and NF1 hotspot mutations and a specific DNA methylation signature finally lead to the diagnosis of primary intracranial sarcoma DICER1-mutant instead of germ cell tumor. Furthermore, our molecular exploratory results involved a pathway, which was not previously evidenced in those DICER1 mutated cerebral sarcoma that is the canonical Wnt signaling driving likely a part of oncogenesis in this newly described pineal entity.
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