Original Articles
A Clinicopathological Prospective Observational Study of Paediatric Intracranial and Spinal Astrocytic Tumours with Special Reference to the Role of BRAF-V600E and IDH-1 Mutation | |
Dr. Sanjib Haldar, Dr. Subhasis Ghosh, Dr. Shubhamitra Chaudhuri, Dr. Uttara Chatterjee | |
Aim: To study pediatric brain tumor with special reference to the role of BRAFV600E and IDH-1 mutation. Material and Methods: The present prospective observational study was conducted in the department of Neurosurgery, Bangur Institute Of Neurosciences & SSKM Hospital, IPGME & R, KOLKATA among 40 histologically confirmed astrocytoma across all CNS compartment operated in our hospital during July 2021 to December 2022. Clinical, radiological investigations, surgical details, outcome data was recorded. The patients were regularly followed up at 3, 6, 12 and 18 months after operation. Results: Male were comparatively more as compared to female. 37.5% of the subjects were suffering from grade IV tumor while 12.5%, 27.5% and 22.5% were having grade III, II and I tumor respectively. Seizure, headache and focal weakness was revealed in 77.5%, 45% and 10% of the subjects respectively. IDH1 mutation was found in 45% (n=34) of the cases, out of which 17 (94.44%) showed IDH1immunopositivity. All these immunopositive cases showed heterozygous IDH1 R132H mutation by sequencing. BRAF V600E mutation was found in 7.14% of the cases. Tumor resection was completed in 67.5% of the subjects while incomplete in 32.5% of the cases. Immediately after surgery, patient condition was bettered in 45% of the subjects while it became worse among 35% of the subjects. Conclusion: Diffuse astrocytoma and anaplastic astrocytoma are characterized by frequent IDH1 mutation, which can be efficiently detected by IDH1 immunohistochemistry; thus avoiding the need of expensive investigations like FISH. |
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