ABSTRACT
Background: The World Health Organization (WHO) 2016 classification incorporated molecular subtyping in glioma, highlighting the diagnostic and prognostic significance. The study aims to determine the isocitrate dehydrogenase (IDH-1) gene, α-thalassemia/mental retardation syndrome X-linked (ATRX) gene, and tumor suppressor gene-53 (p53) mutation in glioma and their correlation with various clinical and radiological parameters.Methods: In this prospective observational study, histopathological slides of glioma (2017-2018), were analyzed for IDH-1, ATRX and p53 mutations and their correlation with various clinical and radiological parameters.Results: IDH-1 mutation was found in 48 (38.7%), ATRX loss in 38 (30.6%) and p53 mutation in 40 (32.5%) patients. The expression of IDH-1 was significantly higher (43.7%) in adults; however, no significant difference was seen with gender. Also 51.2% of patients, who presented with seizures, showed IDH-1 expression; and 27.7% of patients, who had neurological deficit also showed IDH-1 expression. IDH-1 expression was high in glioma located at insula (73.3%) and parietal lobe (71.4%); while ATRX loss was seen in glioma located at insula (80%). Intraventricular glioma characteristically lacks all three markers: IDH-1 expression, p53 overexpression and ATRX loss. IDH-1 expression and p53 overexpression was seen mainly in diffuse fibrillary astrocytoma, oligodendroglioma, anaplastic astrocytoma and glioblastoma.Conclusions: Molecular subtyping is of paramount importance in glioma management. IDH-1 mutation is commonly observed in adults and patients presenting with seizures. The duration of symptoms correlates with IDH-1 and ATRX mutations. Hypothalamic tumors lack all three mutations.
Subject(s)
Adult , Animals , Brain Stem Neoplasms/complications , Brain Stem Neoplasms/diagnosis , Brain Stem Neoplasms/pathology , Cysticercus/isolation & purification , Histocytochemistry , Humans , Magnetic Resonance Imaging , Male , Microscopy , Neurilemmoma/complications , Neurilemmoma/diagnosis , Neurilemmoma/pathology , Neurocysticercosis/complications , Neurocysticercosis/diagnosis , Neurocysticercosis/pathology , Spinal Cord/pathology , Spinal Cord/diagnostic imagingABSTRACT
Spinal hydatid disease is an uncommon cause of spinal cord compression and it constitutes 1% of all cases of hydatid disease. The authors present a case of a 21-year-old female presenting with rapid onset paraplegia caused by pathologically confirmed by extradural spinal hydatid cyst. Patient had marked improvement following surgical intervention. The case is discussed and the relevant literature is briefly reviewed.