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MODERN APPROACHES TO MORPHOLOGICAL DIAGNOSIS OF PEDIATRIC
BRAIN TUMORS: INTEGRATION OF IHC AND GENETIC TESTING
Tashmatov Suxrob Abdurashidovich
1
Magrupov Baxodir Asadullayevich
2
"National Children's Medical Center" Children's Neurosurgery Department, Parkent
Street, 294, Tashkent, Uzbekistan, 1001711
1
Center for the Development of Professional Qualification of Medical Workers,
Department of Pathological Anatomy and Forensic Medicine
2
https://doi.org/10.5281/zenodo.15475690
Abstract
This study explores the integration of immunohistochemistry (IHC) and genetic testing
in the morphological diagnosis of pediatric brain tumors. Tissue samples from 102 pediatric
patients aged 1–17 years were analyzed using both traditional histopathology and advanced
molecular tools. Markers such as Ki-67, GFAP, OLIG2, and Synaptophysin were evaluated
alongside IDH1 and BRAF V600E mutations. The combined approach significantly improved
tumor classification accuracy and provided prognostic insights. The study demonstrates that
incorporating IHC and genetic profiling into standard diagnostic algorithms enhances the
precision of pediatric neuro-oncology diagnostics and supports the development of
individualized treatment strategies.
Keywords:
pediatric brain tumors, immunohistochemistry, genetic testing, Ki-67, IDH1,
BRAF V600E, diagnostics, personalized medicine, morphology.
Relevance
Brain tumors are among the most common and life-threatening malignancies in
children, often requiring complex diagnostic procedures to guide treatment. Conventional
histological evaluation, while essential, may not fully capture the biological behavior or
molecular subtype of the tumor. In recent years, international protocols have increasingly
relied on a combination of morphological, immunohistochemical (IHC), and genetic data to
refine classification and prognostication. However, such integrated diagnostic models are
rarely implemented in resource-limited settings, including parts of Central Asia. This study
addresses this gap by introducing a combined IHC and genetic testing approach in pediatric
brain tumor diagnosis. Through this methodology, clinicians can identify key biomarkers—
such as Ki-67, IDH1, and BRAF V600E—that help stratify patients by risk and predict
therapeutic response. These modern tools have the potential to transform pediatric neuro-
oncology by enabling personalized, biology-driven care and reducing diagnostic uncertainty,
particularly in challenging or poorly differentiated cases.
Objective:
To assess the diagnostic and prognostic value of integrating immunohistochemical
markers and genetic testing in the morphological evaluation of pediatric brain tumors.
Materials and Methods
The study included tumor samples from 102 pediatric patients aged 1–17 years,
operated at a tertiary neurosurgical center between 2020 and 2024. Histological analysis was
conducted using H&E staining. Immunohistochemical evaluation of Ki-67, GFAP, OLIG2, and
Synaptophysin was performed on automated platforms (Leica Bond-Max and Ventana
Benchmark Ultra). Molecular testing included PCR and Sanger sequencing for IDH1 and BRAF
V600E mutations. Digital pathology systems were used for quantification. Clinical and
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histological data were statistically analyzed using SPSS 26.0 to determine correlations
between molecular profiles, tumor grade, and biological behavior.
Results
Astrocytomas represented 47% of the tumors, followed by medulloblastomas (24%)
and ependymomas (15%). A Ki-67 index above 15% was associated with higher-grade tumors
in 35% of cases. OLIG2 and GFAP were highly expressed in glial neoplasms. IDH1 mutations
were present in 10% of diffuse astrocytomas, while BRAF V600E mutations were found in
14% of pilocytic astrocytomas and gangliogliomas. The combined IHC and genetic approach
significantly improved diagnostic precision compared to histology alone (p<0.01). This
integrated strategy also identified biologically aggressive tumors more accurately, aiding
clinicians in making evidence-based decisions regarding therapy intensity.
Conclusion
The integration of immunohistochemistry and genetic testing into the morphological
diagnosis of pediatric brain tumors markedly enhances diagnostic accuracy and prognostic
value. This combined approach allows for better identification of tumor subtypes, particularly
in histologically ambiguous cases, and facilitates the development of individualized treatment
plans. The findings of this study support the incorporation of molecular diagnostics into
standard neuro-oncology workflows. In regions with limited access to advanced tools, this
strategy offers a practical and scalable solution for improving outcomes in pediatric brain
tumor patients by aligning diagnosis with biological behavior and treatment potential.
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