Journal Article

TBIO-12. NON-TARGETED MUTATION AND FUSION ANALYSES CAN AID IN CLASSIFICATION AND TREATMENT OF PEDIATRIC GLIOMAS

Ahmed Gilani, Jean Mulcahy Levy and Bette Kleinschmidt-DeMasters

in Neuro-Oncology

Volume 20, issue suppl_2, pages i182-i182
Published in print June 2018 | ISSN: 1522-8517
Published online June 2018 | e-ISSN: 1523-5866 | DOI: https://dx.doi.org/10.1093/neuonc/noy059.700
TBIO-12. NON-TARGETED MUTATION AND FUSION ANALYSES CAN AID IN CLASSIFICATION AND TREATMENT OF PEDIATRIC GLIOMAS

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Abstract

Many tertiary care centers currently utilize a broad panel-based approach for assessment of potentially-actionable fusions or mutations in tumors. Large 300-500 gene panels or those specifically-formulated for mutation common in glial tumors are costly and/or access remains an issue for many institutions. Here, we present recent experience (9/ 2017-1/2018) in acquiring diagnostic, prognostic and predictive information for pediatric brain tumors, using Archer fusion and a limited 26-gene solid tumor mutational panel, not tailored specifically to glial neoplasms. A supratentorial low-grade glioma in a 7-year-old male with non-specific histology revealed a MYB-QKI fusion - a molecular signature for angiocentric glioma, solidifying diagnosis of angiocentric glioma. Conversely, a 14-year-old male with tumor histology classic for angiocentric glioma showed absence of MYB-QK1 fusion; additional genomic alterations of PDGFRA, BCOR, CDKN2A, p14, CDKN2C, SMARCA4, and TERT promotor on a commercially-available larger panel, indicated high-grade glioma and affecting upfront therapy. Another difficult-to- classify low-grade glioma in a 6-year-old male showed GOPC-ROS1 fusion transcript. This alteration, which has been seen in lung cancers but rarely been reported in glial tumors (and unlikely to be included on specifically-formulated glial panels), predicts response to inhibitors, potentially contributing the adjunctive therapy options. In a third case, an ETV6-NTRK3 fusion transcript was identified in a BRAF-V600E- negative epithelioid-glioblastoma, qualifying the patient for potential entrectinib inhibition of NTRK. These examples demonstrate the utility of using even smaller, broad solid tumor panels agnostic to histological diagnosis in successfully revealing interesting/actionable findings in pediatric brain tumor patients.

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Subjects: Medical Oncology ; Neurology

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