Pediatric glial tumors comprise wide range pathologies which may mimic histomorphological features of each other's but generally have very diverse disease course. WHO Classification of Tumors of Central Nervous System (2016 and 2021) points to the necessity of investigating several molecular alterations for integrated pathological diagnosis of childhood CNS tumors. This makes customized next-generation sequencing (NGS) a powerful tool for the diagnosis of childhood CNS tumors.

Acıbadem Molecular Pathology Brain Tumor NGS Panel was designed according to targeted deep RNA and DNA sequencing. RNA and DNA were isolated from paraffin blocks containing more than 50% tumor in 45 cases with childhood CNS tumors. Miniseq Sequencıng System, Illumına and Archer Analysıs Ver 6.0.3.2 platforms were used. Fusions (translocations), mutations, and DNA copy number changes in 81 genes were screened for the most common molecular alterations in CNS tumors.

Fourty-five childhood CNS tumors were evaluated with NGS results. Among these there were 19 pilocytic astrocytomas, 1 case of high grade astrocytoma with piloid features, 4 diffuse leptomeningeal glioneuronal tumors, 1 pleomorphic xanthoastrocytoma, 4 pediatric diffuse glial tumors, 1 infantile hemispheric astrocytoma, 1 astroblastoma, 12 diffuse midline glioma. Sixteen of these tumors were able to be diagnosed based on these molecular findings. Thirty-four cases received targeted therapies.

The customized NGS panel, as a single molecular workflow is very helpful and supportive in diagnosis for CNS childhood tumors. Since the number of driver mutations are few in childhood tumors, detection of the driver molecular alteration is guiding the medical treatment startegy in terms of targeted regimens.