Article PDF :

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Article type :

Case Report

Author :

Krupa Mehta*, Riddhi Parsana, Raj Shah, Devanshi Shah, Preeti Jhaveri, Minesh Gandhi, Cherry Shah

Volume :

11

Issue :

4

Abstract :

Myxoid glioneuronal tumours (MGNTs) represent a recently recognized entity in the World Health Organization (WHO) classification of Central Nervous System (CNS) tumours 5 edition. They are often seen in specific locations within the CNS, such as the septum pellucidum, foramen of Monro, or periventricular white matter of the lateral ventricle. Historically, these tumours were frequently misclassified as dysembryoplastic Neuroepithelial Tumours (DNT), primarily due to their similar histological features. MGNTs have been related with a dinucleotide substitution at codon 385 within the platelet-derived growth factor receptor alpha (PDGFRA) gene. This genetic variation results in the replacement of a lysine residue with either leucine or isoleucine (p. LysK385Leu/Iso). This genetic alteration appears to be unique to MGNTs and has not been reported in any other CNS tumor types.