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Vol. 33. Issue 1.
Pages 31-34 (January - February 2022)
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Vol. 33. Issue 1.
Pages 31-34 (January - February 2022)
Case Report
Early atypical malignant transformation of diffuse low-grade astrocytoma: The importance of genotyping
Transformación maligna atípica temprana de astrocitoma difuso de bajo grado: la importancia de genotipificar
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Pedro Valente Aguiara,b,
Corresponding author
, Osvaldo Sousaa,b, Roberto Silvac, Rui Vaza,b,d, Paulo Linharesa,b,d
a Department of Neurosurgery, Centro Hospitalar Universitário São João, Oporto, Portugal
b Faculty of Medicine, Oporto University, Portugal
c Department of Anatomical Pathology, Centro Hospitalar Universitário São João, Oporto, Portugal
d Neurosciences Centre, Hospital CUF, Oporto, Portugal
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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:
Diffuse astrocytoma
IDH 1/2 mutation
IDH-wildtype
Lower-grade gliomas
Tumour genotype
Resumen

Clásicamente, el astrocitoma difuso (OMS II) se clasificaba como neoplasia de crecimiento lento, afectando a adultos jóvenes y con tendencia para conversión maligna tardía. Reportamos un caso de transformación maligna temprana de astrocitoma difuso de grado bajo 17 meses después de remoción tumoral completa, como glioma intraventricular de grado alto. Un análisis retrospectivo para la presencia de la mutación IDH 1/2 fue negativo. La creciente evidencia demuestra que los astrocitomas IDH-wildtype se comportan de forma más agresiva, así que identificar la mutación IDH debería ser mandatorio para determinar el pronóstico y redireccionar el tratamiento de los astrocitomas.

Palabras clave:
Astrocitoma difuso
Mutación IDH 1/2
IDH-wildtype
Glioma de bajo grado
Genotipificar

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