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Case Reports
. 2023 Oct;43(5):391-395.
doi: 10.1111/neup.12896. Epub 2023 Feb 14.

Pilocytic astrocytoma harboring a novel GNAI3-BRAF fusion

Ruihe Lin  1 , Alicia Kenyon  2 , Zi-Xuan Wang  1 , Jingli Cai  3 , Lorraine Iacovitti  3 , Lawrence C Kenyon  1
Affiliations
Case Reports

Pilocytic astrocytoma harboring a novel GNAI3-BRAF fusion

Ruihe Lin et al. Neuropathology. 2023 Oct.

Abstract

Pilocytic astrocytoma (PA), a central nervous system (CNS) World Health Organization grade 1 tumor, is mainly seen in children or young adults aged 5-19. Surgical resection often provides excellent outcomes, but residual tumors may still remain. This low-grade tumor is well recognized for its classic radiological and morphological features; however, some unique molecular findings have been unveiled by the application of next-generation sequencing (NGS). Among the genetic abnormalities identified in this low-grade tumor, increasing evidence indicates that BRAF alterations, especially BRAF fusions, play an essential role in PA tumorigenesis. Among the several fusion partner genes identified in PAs, KIAA1549-BRAF fusion is notably the most common detectable genetic alteration, especially in the cerebellar PAs. Here, we report a case of a young adult patient with a large, right-sided posterior fossa cerebellar and cerebellopontine angle region mass consistent with a PA. Of note, NGS detected a novel GNAI3-BRAF fusion, which results in an in-frame fusion protein containing the kinase domain of BRAF. This finding expands the knowledge of BRAF fusions in the tumorigenesis of PAs, provides an additional molecular signature for diagnosis, and a target for future therapy.

Keywords: BRAF fusion; GNAI3; gliomagenesis; next-generation sequencing (NGS); pilocytic astrocytoma.

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References

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