IDH1 Mutation in Brain Stem Glioma: Case Report and Review of Literature

Overview

Journal Asian J Neurosurg

Specialty Neurology

Date 2018 Apr 24

PMID 29682047

Citations 6

Authors

Seyed Amirhossein Javadi

Christian Hartmann

Gerhard Franz Walter

Roozbeh Banan

Amir Samii

Affiliations

Soon will be listed here.

Abstract

The role of isocitrate dehydrogenase 1 (IDH1) mutation in brain stem glioma is not clear. To the best of our knowledge, six cases of brain stem gliomas carrying IDH1/2 mutations are currently reported in the literature. One case of diffuse brain stem glioma with IDH1 mutation, which was followed for 2 years, is presented and compared with IDH1 negative tumors. A 22-year-old lady was referred with diplopia and left arm palsy. Neuroimaging detected a nonenhancing, nonhomogeneous diffuse infiltrating brain stem tumor extending from pons to medulla. Microsurgical debulking was performed. Microscopic evaluation of the tissue specimen and immunohistochemistry revealed an astrocytoma WHO Grade II with proliferation rate of 3% and glial fibrillary acidic protein (GFAP)-positive tumor cells. Interestingly, the tumor cells expressed mutated IDH1 R132H protein. The patient underwent adjuvant radiation and chemotherapy. The primary and 2 years' clinical/radiological characteristics did not indicate any significant difference from other cases without IDH1 mutation. the prognostic value of IDH1/2 mutation in brain stem glioma is unclear. Brain stem biopsies may allow determination of a tissue-based tumor diagnosis for further investigations.

Citing Articles

Clinical outcome, radiological findings, and genetic features of IDH-mutant brainstem glioma in adults.

Oki S, Ishi Y, Sawaya R, Okamoto M, Motegi H, Tanei Z Acta Neurochir (Wien). 2024; 166(1):263.

PMID: 38864949 DOI: 10.1007/s00701-024-06154-3.

IDH-mutant diffuse gliomas: tips and tricks in the era of genomic tumor classification.

Ammendola S, Broggi G, Barresi V Histol Histopathol. 2023; 38(7):739-753.

PMID: 36651583 DOI: 10.14670/HH-18-582.

Adult isocitrate dehydrogenase-mutant brainstem glioma: illustrative case.

Ye V, Landry A, Purzner T, Kalyvas A, Mohan N, OHalloran P J Neurosurg Case Lessons. 2022; 1(12):CASE2078.

PMID: 35854925 PMC: 9241351. DOI: 10.3171/CASE2078.

Malignant Progression of an IDH Mutant Brainstem Glioma in Adult.

Sano K, Matsuda K, Kawanami K, Kanemura Y, Ohe R, Sonoda Y NMC Case Rep J. 2022; 8(1):301-307.

PMID: 35079479 PMC: 8769401. DOI: 10.2176/nmccrj.cr.2020-0151.

IDH-mutant brainstem gliomas in adolescent and young adult patients: Report of three cases and review of the literature.

Chang E, Smith-Cohn M, Tamrazi B, Ji J, Krieger M, Holdhoff M Brain Pathol. 2021; 31(4):e12959.

PMID: 33960568 PMC: 8412065. DOI: 10.1111/bpa.12959.

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