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. 2023 Mar:37:100885.
doi: 10.1016/j.neo.2023.100885. Epub 2023 Feb 8.

Myxoid glioneuronal tumor: Histopathologic, neuroradiologic, and molecular features in a single center series

C Caporalini  1 , M Scagnet  2 , L Giunti  3 , V Cetica  4 , D Mei  4 , V Conti  4 , S Moscardi  5 , L Macconi  6 , F Giordano  2 , L D'Incerti  6 , L Genitori  2 , R Guerrini  4 , A M Buccoliero  5
Affiliations

Myxoid glioneuronal tumor: Histopathologic, neuroradiologic, and molecular features in a single center series

C Caporalini et al. Neoplasia. 2023 Mar.

Abstract

Background: Myxoid glioneuronal tumor (MGT) is a benign glioneuronal neoplasm recently introduced in the World Health Organization (WHO) classification of the central nervous system (CNS) tumors. MGTs are typically located in the septum pellucidum, foramen of Monro or periventricular white matter of the lateral ventricle. They were previously diagnosed as dysembryoplastic neuroepithelial tumors (DNT), showing histological features almost indistinguishable from classical cortical DNT. Despite that, MGTs have been associated with a specific dinucleotide substitution at codon 385 in the platelet-derived growth factor receptor alpha (PDGFRA) gene, replacing a lysine residue with either leucine or isoleucine (p. LysK385Leu/Iso). This genetic variation has never been described in any other CNS tumor.

Materials and methods: Thirty-one consecutive tumors, previously diagnosed as DNTs at the Meyer Children's Hospital IRCCS between January 2010 and June 2021 were collected for a comprehensive study of their clinical, imaging, pathological features, and molecular profile.

Results: In six out of the thirty-one tumors we had previously diagnosed as DNTs, we identified the recurrent dinucleotide mutation in the PDGFRA. All six tumors were typically located within the periventricular white matter of the lateral ventricle and in the septum pellucidum. We then renamed these lesions as MGT, according to the latest WHO CNS classification. In all patients we observed an indolent clinical course, without recurrence.

Conclusion: MGT represent a rare but distinct group of neoplasm with a typical molecular profiling, a characteristic localization, and a relative indolent clinical course.

Keywords: Dysembryoplastic neuroepithelial tumors; Myxoid glioneuronal tumor; PDGFRA; Septum pellucidum.

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Conflict of interest statement

Declaration of Competing Interest None.

Figures

Fig 1
Fig. 1
Pherogram showing the PDGFRA p.Lys385 hotspot variants. Five patients carried the c.1153_1154delAAinsTT (p.Lys385Leu) variant (A) and one the c.1154_1155delAGinsTA (p.Lys385Ile) variant (B).
Fig 2
Fig. 2
Representative hematoxylin and eosin stained section of MGT reported in this serie. All case show a low cellularity proliferation of oligodendrocyte-like cells with monotonous round to oval nuclei, small nucleoli, and scant to moderate eosinophilic cytoplasm within a mucin-rich stroma. The tumors mostly displayed a microcytic architecture (A, B, C, F: cases MGT#1, MGT#2, MGT#3, MGT#6). In some case the tumor cells are dispose to form strands and cords (F: case MGT#6). Scattered floating neurons are seen (A, C, E: cases MGT#1, MGT#3, MGT#5). Delicate rosettes could also be rarely found (D: case MGT#4).
Fig 3
Fig. 3
Neuroradiologic features of MGTs reported in this series. All cases displayed a lesion with hyperintense signal in T2-weighted images and with hypointense signal in T1-weighted images, without contrast enhancement. (A: MGT#1; B: MGT#2; C: MGT#3; D: MGT#4; E: MGT#5; F: MGT#6).
Fig 3
Fig. 3
Neuroradiologic features of MGTs reported in this series. All cases displayed a lesion with hyperintense signal in T2-weighted images and with hypointense signal in T1-weighted images, without contrast enhancement. (A: MGT#1; B: MGT#2; C: MGT#3; D: MGT#4; E: MGT#5; F: MGT#6).
See this image and copyright information in PMC

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