Informace o publikaci
Astrocytoma, IDH-mutant with primitive neuronal component
| Název česky | Astrocytom, IDH-mutovaný s primitivní neuronální komponentou |
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| Autoři | |
| Rok publikování | 2025 |
| Druh | Konferenční abstrakty |
| Citace | |
| Popis | Background & Objectives: * Astrocytoma, IDH-mutant is the most common primary brain tumor in young adults, with peak incidence between the ages of 30 and 40. This genetically defined tumor is morphologically characterized by diffuse infiltration with fibrillary astrocytic, gemistocytic, or oligodendroglial differentiation. Only rarely does it exhibit a primitive neuronal component (PNET), which we aim to describe. Methods: * Our cohort was established through a nationwide search of pathology archives for diffuse gliomas with PNET differentiation. Only cases (n=18) with confirmed IDH mutation by immunohistochemistry or sequencing were included in the study. Formalin-fixed, paraffin-embedded tumor tissue samples were macrodissected, and each PNET and glial component was analyzed using immunohistochemistry, next-generation sequencing, and methylation profiling. Results: * The cases in our study predominantly exhibited dual glial and embryonal morphology, while only a few demonstrated pure PNET differentiation. The PNET component showed reduced GFAP expression and expressed at least one neuronal marker, typically synaptophysin. A subset of cases displayed true large-cell/anaplastic features and cell wrapping. Furthermore, the PNET component exhibited a distinct epigenetic signature from the glial component and selectively harbored MYCN amplification and RB1 alterations. Conclusion: * All studied cases were high-grade tumors, characterized by a high total number of copy number variations, with MYCN amplification and RB1 loss being common features. These findings highlight the distinct molecular and epigenetic characteristics of the PNET component compared to the glial counterpart. |
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