72. Comprehensive genomic profiling in the diagnosis of Central Nervous System tumors

Aly Abdelkareem

Paulo Vidal Campregher

Dr. Campregher is a hematologist and molecular pathologist with a focus on molecular diagnosis. He works at the clinical laboratory of Hospital Albert Einstein since 2011 developing NGS assays for diagnosis in oncology and hematology. He is an associate professor at Albert Einstein Graduate Program in Health Sciences and the coordinator of courses in Precision Medicine applied to oncology, hematology and pediatric oncology.


Luiz Gustavo Ferreira Cortes, Caroline Nunes Silveira, Larissa Barbosa de Lima, Karla de Oliveira Pelegrino, Vitor Ribeiro Paes, Paulo Vidal Campregher

Hospital Israelita Albert Einstein – Clinical Laboratory, São Paulo, São Paulo, Brazil

Introduction: The inclusion of molecular biomarkers to traditional histological diagnoses has resulted in significant changes in the World Health Organization (WHO) classification of central nervous system (CNS) tumors. The current study aims to demonstrate the importance of genomic profiling analysis for CNS tumor classification based on clinical laboratory experience.

Material and methods: Out of 436 solid tumor samples received for sequencing over 2.9 years, 24 samples (5.5%) were from central nervous system tumors. Samples were sequenced by the NGS multi-gene panel trusight Oncology 500, at the Clinical Laboratory of Hospital Israelita Albert Einstein.

Results: Of the 24 samples analyzed, 20 were gliomas, 2 glioneuronal neoplasms, 1 ependymoma, and 1 meningioma. According to the new classification of the World Health Organization, in 19 samples (79.2%) the final diagnosis was predominantly established through CGP. In four samples (16.6%) CGP helped to confirm the diagnosis, and in one (4.2%) referring to a posterior fossa ependymoma (group PFA), CGP had no impact on the classification.

Conclusion: CGP has become an indispensable tool for the classification of CNS tumors. In our case series, only 1 case out of a total of 24 cases was not impacted by the molecular test.