[Supratentorial neuroepithelial tumor with PLAGL1 gene fusion - a new type of morphologically variable pediatric brain neoplasm defined by a distinct DNA methylation class. A case report and literature review].

Autor:	Kopachev DN; Research Institute for Emergency Pediatric Surgery and Traumatology, Moscow, Russia.; Neurology Research Center, Moscow, Russia., Ryzhova MV; Burdenko Neurosurgical Center, Moscow, Russia., Kislyakov AN; Morozov Children's Clinical Hospital, Moscow, Russia., Shaikhaev EG; Burdenko Neurosurgical Center, Moscow, Russia., Zheludkova OG; Voyno-Yasenetsky Practical Center for Specialized Medical Care for Children, Moscow, Russia., Kumirova EV; Morozov Children's Clinical Hospital, Moscow, Russia., Meshcheryakov SV; Research Institute for Emergency Pediatric Surgery and Traumatology, Moscow, Russia., Vlasov PA; Burdenko Neurosurgical Center, Moscow, Russia., Shkatova AM; Burdenko Neurosurgical Center, Moscow, Russia., Semenova ZB; Research Institute for Emergency Pediatric Surgery and Traumatology, Moscow, Russia., Gushcha AO; Neurology Research Center, Moscow, Russia.
Jazyk:	ruština
Zdroj:	Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko [Zh Vopr Neirokhir Im N N Burdenko] 2024; Vol. 88 (2), pp. 62-68.
DOI:	10.17116/neiro20248802162
Abstrakt:	Background: Methylation analysis has become a powerful diagnostic tool in modern neurooncology. This technique is valuable to diagnose new brain tumor types. Objective: To describe the MRI and histological pattern of neuroepithelial tumor with PLAGL1 gene fusion. Material and Methods: We present a 6-year-old patient with small right frontal intraaxial tumor causing drug resistant epilepsy. Despite indolent preoperative clinical course and MRI features suggesting glioneuronal tumor, histological evaluation revealed characteristics of high-grade glioma, ependymoma and neuroblastoma. Results: Methylation analysis of tumor DNA confirmed a new type of a recently discovered neoplasm - neuroepithelial tumor with PLAGL1 fusion (NET PLAGL1). PCR confirmed fusion of PLAGL1 and EWSR1 genes. No seizures were observed throughout the follow-up period. There was no tumor relapse a year after surgery. Conclusion: Methylation analysis in neurooncology is essential for unclear tumor morphology or divergence between histological and clinical data. In our case, this technique confirmed benign nature of tumor, and we preferred follow-up without unnecessary adjuvant treatment.
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu