Diffuse midline glioma with novel, potentially targetable, FGFR2-VPS35 fusion.

Autor:	Zanazzi G; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York 10032, USA.; Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire 03766, USA., Liechty BL; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York 10032, USA.; Department of Pathology, Weill Cornell Medical College, New York, New York 10021, USA., Pendrick D; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York 10032, USA., Krasnozhen-Ratush O; Department of Pathology, NYU Langone Medical Center, New York, New York, 10016, USA.; Department of Pathology, Baystate Medical Center, Springfield, Massachusetts 01199, USA., Snuderl M; Department of Pathology, NYU Langone Medical Center, New York, New York, 10016, USA., Allen JC; Department of Pediatrics, NYU Langone Medical Center, New York, New York 10016, USA., Garvin JH; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York 10032, USA., Mansukhani MM; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York 10032, USA., Roth KA; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York 10032, USA., Hsiao SJ; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York 10032, USA.
Jazyk:	angličtina
Zdroj:	Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2020 Oct 07; Vol. 6 (5). Date of Electronic Publication: 2020 Oct 07 (Print Publication: 2020).
DOI:	10.1101/mcs.a005660
Abstrakt:	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 FGFR2 fused to exon 2 of VPS35 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. (© 2020 Zanazzi et al.; Published by Cold Spring Harbor Laboratory Press.)
Databáze:	MEDLINE
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