[Biopsy in the treatment of children with diffuse brainstem tumors].
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UNLABELLED: Background. Diffuse brainstem tumors account for 10-20% of all brain tumors in children. These neoplasms are the leading cause of death in pediatric neuro-oncology. There are no effective treatments for this disease. Overall survival rarely exceeds 1.5-2 years. OBJECTIVE: Biopsy of diffuse brainstem tumors to determine their histological type and molecular genetic markers; to identify potential targets for targeted therapy. MATERIAL AND METHODS: In 2021-2025, 26 patients with diffuse brainstem tumors underwent surgery at the Morozovskaya Children's Clinical Hospital. Age of patients was 1.5-17 years, duration of disease - from 1 week to 13 months. There was primary tumor in 96% of cases. Preliminary diagnosis was based on clinical presentation and MRI. Stereotactic biopsy using BrainLab neuronavigator via transcerebellar approach was performed in 24 patients, open biopsy - in 2 cases. RESULTS: The tumor was verified in 24 (92%) patients. Brain tissue was obtained from two patients. According to morphological data, 80% of patients had diffuse midline glioma. Ganglioglioma was detected in one case, high-grade glioma in one case, and low-grade glioma in one case. All patients underwent immunohistochemical examination of specimen, and 58% were examined using the NGS program. The H3K27M mutation was detected in 71% of cases, BRAF-V600E mutations in 2 patients, and FGFR2 gene mutation in 1 patient. Targeted therapy was based on information about mutations. The overall 2-year survival rate was 20%, event-free 2-year survival - 0%. Event-free survival of a patient with the BRAF-V600E mutation who received targeted therapy was 21 months. CONCLUSION: Stereotactic biopsy of diffuse brainstem tumors can be performed safely. Identification of targets for personalized therapy may be essential for management of these patients.