FGFR1 tyrosine kinase domain duplication in pilocytic astrocytoma with anaplasia

Leomar Y Ballester; Marta Penas-Prado; Norman E Leeds; Jason T Huse; Gregory N Fuller

doi:10.1101/mcs.a002378

FGFR1 tyrosine kinase domain duplication in pilocytic astrocytoma with anaplasia

Cold Spring Harb Mol Case Stud. 2018 Apr 2;4(2):a002378. doi: 10.1101/mcs.a002378. Print 2018 Apr.

Authors

Leomar Y Ballester¹, Marta Penas-Prado², Norman E Leeds³, Jason T Huse⁴, Gregory N Fuller⁴

Affiliations

¹ Department of Pathology and Laboratory Medicine and Department of Neurosurgery, University of Texas Health Science Center, Houston, Texas 77030, USA.
² Department of Neuro-Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas 77030, USA.
³ Department of Diagnostic Radiology, Section of Neuroimaging, The University of Texas MD Anderson Cancer Center, Houston, Texas 77030, USA.
⁴ Department of Pathology, Section of Neuropathology, The University of Texas MD Anderson Cancer Center, Houston, Texas 77030, USA.

Abstract

We report the case of a 27-yr-old male with visual field loss who had a 4.9-cm complex cystic mass in the right occipital lobe. Histologic examination showed pilocytic astrocytoma (PA) with anaplasia, and molecular characterization revealed FGFR1 duplication with additional variants of unknown significance in several genes (ARID1A, ARID1B, CHEK2, EPHA5, and MLL2). This is one of only a very few reported cases of anaplastic PA with characterization of molecular alterations.

Keywords: astrocytoma.

Publication types

Case Reports

MeSH terms

Adult
Anaplasia
Astrocytoma / diagnosis*
Astrocytoma / genetics*
Biopsy
Gene Duplication*
Humans
Immunohistochemistry
Magnetic Resonance Imaging
Male
Neoplasm Grading
Protein Interaction Domains and Motifs / genetics*
Receptor, Fibroblast Growth Factor, Type 1 / chemistry
Receptor, Fibroblast Growth Factor, Type 1 / genetics*
Tomography, X-Ray Computed

Substances

FGFR1 protein, human
Receptor, Fibroblast Growth Factor, Type 1