Title | Diffuse midline glioma with novel, potentially targetable, fusion. |
Publication Type | Journal Article |
Year of Publication | 2020 |
Authors | Zanazzi G, Liechty BL, Pendrick D, Krasnozhen-Ratush O, Snuderl M, Allen JC, Garvin JH, Mansukhani MM, Roth KA, Hsiao SJ |
Journal | Cold Spring Harb Mol Case Stud |
Volume | 6 |
Issue | 5 |
Date Published | 2020 10 |
ISSN | 2373-2873 |
Keywords | Brain Neoplasms, Child, Glioma, Humans, In Situ Hybridization, Fluorescence, Male, Mutation, Receptor, Fibroblast Growth Factor, Type 2, Vesicular Transport Proteins, Whole Exome Sequencing |
Abstract | We report a case of a slow-growing, diffuse, infiltrating glioma in the right brainstem of a 9-yr-old boy. The tumor was negative by immunohistochemical staining for histone H3 K27M, BRAF V600E, and IDH1 R132H mutations. Fluorescence in situ hybridization did not reveal a BRAF duplication. Genomic profiling of the tumor, by DNA methylation array and cancer whole-exome and transcriptome sequencing, was performed. This analysis showed copy-number alterations, including gains of several chromosomes. In addition, a novel fusion involving the first 17 exons of fused to exon 2 of was identified. This novel fusion is predicted to result in activation of fibroblast growth factor receptor (FGFR) signaling and is potentially targetable using FGFR inhibitors. This tumor expands the spectrum of pediatric diffuse gliomas. |
DOI | 10.1101/mcs.a005660 |
Alternate Journal | Cold Spring Harb Mol Case Stud |
PubMed ID | 32839179 |
PubMed Central ID | PMC7552930 |
Related Faculty:
Benjamin L. Liechty, M.D.