Molecular and Immunohistochemical Profiling of Pediatric Brain Tumors in Uzbekistan

Keywords: pediatric neuro-oncology, Uzbekistan, brain tumor biomarkers, p53, H3K27M, IDH1 R132H, GFAP, immunohistochemistry, molecular pathology.

Introduction:  This preliminary investigation explores the implementation of molecular and immunohistochemical diagnostics for pediatric brain tumors in Uzbekistan. A total of 72 tumor specimens from aged patients 2 to 17 years were analyzed using routine histopathology, immunohistochemistry, and targeted gene sequencing. The study focused on markers including p53, NeuN, GFAP, IDH1 R132H, and H3K27M. Expression patterns were analyzed to assess their correlation with tumor types, grades, and clinical parameters. High p53 expression and H3K27M mutation were significantly associated with poor prognosis. The findings highlight the relevance of biomarker integration into routine pediatric brain tumor diagnostics and emphasize the potential of personalized approaches in neuro-oncology in Uzbekistan.

Results: The most common tumors were gliomas (52.8%), embryonal tumors (26.4%), and ependymal tumors (13.9%). High p53 positivity (>50%) was found in 34.7% of high-grade gliomas and medulloblastomas. H3K27M mutations were identified in 9.7%, mostly in thalamic and pontine tumors. IDH1 R132H mutations were observed in 5.6% of cases, all in supratentorial diffuse astrocytomas. GFAP positivity was present in 90.4% of glial tumors, while NeuN was strongly expressed in neuronal tumors. Statistically significant correlations were observed between p53 overexpression and WHO grade (p=0.01). Kaplan-Meier curves showed reduced survival in patients with H3K27M-positive tumors (p=0.003).

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   Biography: Dr. Tashmatov Sukhrob is a PhD candidate at the Center for the Development of Professional Qualification of Medical Workers. He has published over 15 articles in various journals.

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