2025
Astrocytoma, IDH-mutant with primitive neuronal component
HENDRYCH, Michal; Martin BARÁK; Petra POKORNÁ; Petr POSPÍŠIL; Tomáš KAZDA et al.Základní údaje
Originální název
Astrocytoma, IDH-mutant with primitive neuronal component
Název česky
Astrocytom, IDH-mutovaný s primitivní neuronální komponentou
Název anglicky
Astrocytoma, IDH-mutant with primitive neuronal component
Autoři
HENDRYCH, Michal; Martin BARÁK; Petra POKORNÁ ORCID; Petr POSPÍŠIL; Tomáš KAZDA; Jiří ŠÁNA; Radim JANČÁLEK; Markéta HERMANOVÁ; Jiří SOUKUP; Tomáš JIRÁSEK; Marián ŠVAJDLER; Miroslav KOBLÍŽEK; Petra KAŠPAROVÁ; Dominik HRABOŠ; Patricia DELONGOVÁ a Martin SYRŮČEK
Vydání
COST Net4Brain Annual Meeting and Conference in Bucharest, 2025
Další údaje
Typ výsledku
Konferenční abstrakt
Označené pro přenos do RIV
Ne
Změněno: 19. 1. 2026 21:18, MUDr. Michal Hendrych, Ph.D.
Anotace
Anglicky
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 it exhibits a primitive neuronal component (PNET), which we aim to describe. 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. 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. 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.
Návaznosti
| MUNI/A/1621/2024, interní kód MU |
| ||
| NU23-03-00100, projekt VaV |
|