Características Clínicas, Histológicas e Diagnósticos Diferenciais do Tumor Mixoide Glioneuronal PDGFRA p.K385: uma revisão sistemática

Clinical, Histological Characteristics and Differential Diagnosis of PDGFRA p.K385 Glioneuronal Mystone Tumor: a systematic review

• Rodrigo Mariano Ribeiro (1)
• Anna Melissa Noronha Oliveira (1)
• Lucas Soares Radtke (1)
• Pedro Lucas Grangeiro de Sá Barreto Lima (1)
• Emanuel de Assis Bertulino Martins Gomes (1)
• Sophia Costa Vasconcelos (1)
• Luciano de Albuquerque Mota (1)
• Pedro Henrique Azevedo Damacena (1)
• David Augusto Batista Sá Araújo (1)
• José Arnaldo Motta de Arruda (2)

• https://doi.org/10.22290/jbnc.2023.340307
• J Bras Neurocirur 34 (3):330-335, 2023

Resumo

O tumor mixoide glioneuronal p.K385 (MGT) costuma acometer crianças e adultos jovens, sem preferência por sexo, apresentando predileção pelas regiões de septo pelúcido, corpo caloso e substância branca periventricular. Há relatos de aparecimento em regiões encefálicas atípicas, como em lobo temporal e tecto do mesencéfalo. As manifestações clínicas dos pacientes com MGT são variáveis. Uma considerável parcela é assintomática, com o achado da neoplasia sendo incidental. Ao exame de imagem, há um padrão de hipossinal em ponderação T1, hipersinal em T2, sem realce pelo contraste; e hipossinal central e hipersinal periférico em FLAIR. O MGT está associado a uma mutação dinucleotídica no códon 385 do gene PDGFRA, específica para essa neoplasia, presente em todos os casos relatados. Ademais, o padrão de metilação presente no MGT se aproxima ao do tumor neuroepitelial disembrioplástico. Na análise histológica, observou-se uma proliferação de baixo grau de células semelhantes à oligodendrócitos, estroma mixoide proeminente e poucas ou nenhuma figuras de mitose. Elementos neuronais flutuantes também foram identificados. O presente estudo objetiva descrever as características clínicas, imagenológicas, histológicos e genéticas do MGT.

Palavras-chave

Neurooncologia; Tumor mixoide glioneuronal; Mutação p.K385

Abstract

The myxoid glioneuronal tumor p.K385 (MGT) usually affects children and young adults, with no preference for sex, with a predilection for the septum pellucidum, corpus callosum, and periventricular white matter. There are reports of appearance in atypical brain regions, such as the temporal lobe and midbrain roof. The clinical manifestations of patients with MGT are variable. A considerable portion is asymptomatic, with the finding of the neoplasm being incidental. On imaging, there is a pattern of hyposignal on T1 weighted and hypersignal on T2, without contrast enhancement, and central hyposignal and peripheral hypersignal in FLAIR. MGT is associated with a dinucleotide mutation at codon 385 of the PDGFRA gene, specific for this neoplasm, present in all reported cases. Furthermore, the methylation pattern found in the MGT is similar to dysembryoplastic neuroepithelial tumors. A low-grade proliferation of oligodendrocyte-like cells, prominent myxoid stroma, and few or no mitotic figures were observed on histological analysis. This study aims to describe clinical, imaging, histological, and genetic characteristics in MGT.

Keywords

Neuro-oncology; Glioneuronal myxoid tumor; Mutation p.K385

References

1. Solomon DA, Korshunov A, Sill M, et al. Myxoid glioneuronal tumor of the septum pellucidum and lateral ventricle is defined by a recurrent PDGFRA p.K385 mutation and DNT-like methylation profile. Acta Neuropathol. 2018;136(2):339-43. http://dx.doi.org/10.1007/s00401- 018-1883-2. PMid:30006677.

2. Narvaez EO, Inada BSY, Almeida PRSF, et al. Myxoid glioneuronal tumour – report of three cases of a new tumour in a typical location and review of literature. BJR Case Rep. 2021;7(4):20200139. http://dx.doi. org/10.1259/bjrcr.20200139. PMid:35047190.

3. Kleinschmidt-DeMasters BK, Chiang J, Donson AM, Borges T, Gilani A. Myxoid glioneuronal tumor, PDGFRA p.K385L‐mutant, arising in midbrain tectum with multifocal CSF dissemination. Brain Pathol. 2022;32(1):e13008. http://dx.doi.org/10.1111/bpa.13008. PMid:34297434.

4. Zhou J, Qu K, Lv M, et al. A 4‐year‐old boy with a ventricular mass. Brain Pathol. 2022;32(5):e13081. http://dx.doi.org/10.1111/bpa.13081. PMid:35699689.

5. American Association of Neuropathologists. American Association of Neuropathologists, Inc. Abstracts of the 95th Annual Meeting June 6-9, 2019 Atlanta, Georgia. J Neuropathol Exp Neurol. 2019;78(6):520- 79. http://dx.doi.org/10.1093/jnen/nlz034. PMid:31100148.

6. Louis DN, Wesseling P, Aldape K, et al. cIMPACT‐NOW update 6: new entity and diagnostic principle recommendations of the cIMPACT‐Utrecht meeting on future CNS tumor classification and grading. Brain Pathol. 2020;30(4):844-56. http://dx.doi.org/10.1111/ bpa.12832. PMid:32307792.

7. Lucas C-HG, Villanueva-Meyer JE, Whipple N, et al. Myxoid glioneuronal tumor, PDGFRA p.K385‐mutant: clinical, radiologic, and histopathologic features. Brain Pathol. 2020;30(3):479-94. http://dx.doi.org/10.1111/bpa.12797. PMid:31609499.

8. Gilani A, Siddiq Z, Kleinschmidt-DeMasters BK. Temporal lobe myxoid glioneuronal tumor, PDGFRA p.K385L‐mutant with DNA methylation confirmation. Brain Pathol. 2022;32(5):e13079. http://dx.doi.org/10.1111/bpa.13079. PMid:35562106.

9. Fujii G, Tanaka S, Shin M, et al. A case of Myxoid Glioneuronal Tumor carrying a PDGFRA p.k385-mutant at the Septum Pellucidum. Jpn J Neurosurg. 2021;30(12):871-4. http://dx.doi.org/10.7887/jcns.30.871.

10. Silverman M, Kaur G, Piatt J. Diagnosing the newly defined CNS myxoid glioneuronal Tumor: A pediatric case report. Abstract published in 2021 Annual Meeting. Accessed in https://www.aan.com/MSA/Public/ Events/AbstractDetails/49180.

11. Wang M-Z, Yang L, Zhao Q-H. Myxoid glioneural tumor in clindren: one case report. Chin J Contemp Neurol Neurosurg. 2022;22(5):439-43. http://dx.doi.org/10.3969/j.issn.1672-6731.2022.05.017.

12. Zamora C, Castillo M. From dysembryoplastic neuroepithelial tumors to myxoid glioneuronal tumors, a new entity. AJNR Am J Neuroradiol. 2021;42(11):E77-8. http://dx.doi.org/10.3174/ajnr.A7273. PMid:34531194.

13. Vaz A, Cavalcanti MS, Silva EB Jr, Ramina R, Teixeira BCA. Uncommon glioneuronal tumors: a radiologic and pathologic synopsis. AJNR Am J Neuroradiol. 2022;43(8):1080-9. http://dx.doi.org/10.3174/ ajnr.A7465. PMid:35512827.

14. Perez E, Capper D. Invited review: DNA methylation-based classification of paediatric brain tumours. Neuropathol Appl Neurobiol. 2020;46(1):28-47. http://dx.doi.org/10.1111/nan.12598. PMid:31955441.

15. Lucas C-HG, Solomon DA, Perry A. A review of recently described genetic alterations in central nervous system tumors. Hum Pathol. 2020;96:56-66. http://dx.doi.org/10.1016/j.humpath.2019.10.009. PMid:31678207.

16. Mezzacappa FM, Thorell W. Neuronal brain tumors. Treasure Island: StatPearls; 2022. Available from: https://www.ncbi.nlm.nih.gov/books/ NBK576406/. Accessed: 6/5/2023.

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1MS, Medical student, Faculty of Medicine, Federal University of Ceará – UFC, Fortaleza, CE, Brazil.

2MD, PhD, Faculty of Medicine, Federal University of Ceará – UFC, Fortaleza, CE, Brazil.

 

Received May 19, 2023

Accepted Jun 5, 2023