Identification and targeting of an FGFR fusion in a pediatric thalamic "central oligodendroglioma"

NPJ Precis Oncol. 2017 Sep 7;1(1):29. doi: 10.1038/s41698-017-0036-8. eCollection 2017.

Abstract

Approximately 1-5% of pediatric intracranial tumors originate in the thalamus. While great strides have been made to identify consistent molecular markers in adult oligodendrogliomas, such as the 1p/19q co-deletion, it is widely recognized that pediatric oligodendrogliomas have a vastly different molecular make-up. While pediatric thalamic or "central oligodendrogliomas" are histologically similar to peripheral pediatric oligodendrogliomas, they are behaviorally distinct and likely represent a cohesive, but entirely different entity. We describe a case of a 10-year-old girl who was diagnosed with an anaplastic glioma with features consistent with the aggressive entity often diagnosed as central or thalamic oligodendroglioma. We performed whole-exome (paired tumor and germline DNA) and transcriptome (tumor RNA) sequencing, which demonstrated an FGFR3-PHGDH fusion. We describe this fusion and our rationale for pursuing personalized, targeted therapy for the patient's tumor that may potentially play a role in the treatment of similar cases.

Publication types

  • Case Reports