Early atypical malignant transformation of diffuse low-grade astrocytoma: The importance of genotyping

Pedro Valente Aguiar; Osvaldo Sousa; Roberto Silva; Rui Vaz; Paulo Linhares

doi:10.1016/j.neucir.2020.09.003

Early atypical malignant transformation of diffuse low-grade astrocytoma: The importance of genotyping

Neurocirugia (Astur : Engl Ed). 2020 Nov 5:S1130-1473(20)30126-3. doi: 10.1016/j.neucir.2020.09.003. Online ahead of print.

[Article in English, Spanish]

Authors

Pedro Valente Aguiar¹, Osvaldo Sousa², Roberto Silva³, Rui Vaz⁴, Paulo Linhares⁴

Affiliations

¹ Department of Neurosurgery, Centro Hospitalar Universitário São João, Oporto, Portugal; Faculty of Medicine, Oporto University, Portugal. Electronic address: [email protected].
² Department of Neurosurgery, Centro Hospitalar Universitário São João, Oporto, Portugal; Faculty of Medicine, Oporto University, Portugal.
³ Department of Anatomical Pathology, Centro Hospitalar Universitário São João, Oporto, Portugal.
⁴ Department of Neurosurgery, Centro Hospitalar Universitário São João, Oporto, Portugal; Faculty of Medicine, Oporto University, Portugal; Neurosciences Centre, Hospital CUF, Oporto, Portugal.

PMID: 33162332
DOI: 10.1016/j.neucir.2020.09.003

Abstract

Diffuse astrocytoma (WHO grade II) has classically been considered a slow growing tumour, typically affecting young adults, with tendency for late malignant conversion. We describe a case of early atypical malignant transformation of diffuse astrocytoma seventeen months after complete surgical removal, as an intraventricular high-grade glioma (HGG). Retrospective laboratory findings for the presence of IDH 1/2 (isocitrate dehydrogenase) mutations were negative. There is growing evidence that IDH-wildtype (wt) astrocytomas behave more aggressively, therefore identifying IDH-mutation status should be mandatory in order to determine disease prognosis and guide treatment course.

Keywords: Astrocitoma difuso; Diffuse astrocytoma; Genotipificar; Glioma de bajo grado; IDH 1/2 mutation; IDH-wildtype; Lower-grade gliomas; Mutación IDH 1/2; Tumour genotype.

Publication types

Case Reports