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Vol. 33. Issue 6.
Pages 356-360 (November - December 2022)
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Vol. 33. Issue 6.
Pages 356-360 (November - December 2022)
Case Report
Molecular and clinical characterization of H3 K27M-mutant “non-midline” glioblastoma: A case report and literature review
Estudio molecular y presentación clínica del glioblastoma con mutación H3 K27M «no de línea media»: descripción de un caso y revisión de la literatura
Shumpei Onishia,b, Shinji Ohbaa, Kazuya Kuraokac, Takashi Kurashiged, Kazuhiko Sugiyamae, Fumiyuki Yamasakib,
Corresponding author
fyama@hiroshima-u.ac.jp

Corresponding author.
a Department of Neurosurgery, National Hospital Organization Kure Medical Center and Chugoku Cancer Center, Hiroshima, Japan
b Department of Neurosurgery, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan
c Department of Diagnostic Pathology, National Hospital Organization Kure Medical Center and Chugoku Cancer Center, Hiroshima, Japan
d Department of Neurology, National Hospital Organization Kure Medical Center and Chugoku Cancer Center, Hiroshima, Japan
e Department of Clinical Oncology and Neuro-oncology Program, Hiroshima University Hospital, Hiroshima, Japan
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Abstract

The WHO classification of tumors of the CNS in 2016 defined “diffuse midline glioma, H3 K27M-mutant” as a new tumor entity locating in the CNS midline. However, the H3 K27M-mutation in “non-midline” glioblastoma are rare and their characteristics have been rarely reported. A 16-year-old girl presented a hyper-intense lesion at her left temporal stem on T2WI, FLAIR and DWI. Biopsy was performed and molecular pathological diagnosis was glioblastoma with H3 K27M-mutant. Accordingly, the possibility of H3 K27M-mutant should be examined not only for diffuse glioma without IDH mutation that develops at a midline location, but also in non-midline locations.

Keywords:
Glioblastoma
H3K27M-mutation
Non-midline
Resumen

La clasificación de la OMS de los tumores del SNC en 2016 definió el «glioma difuso de la línea media, H3 K27M-mutante» como una nueva entidad tumoral que se localiza en la línea media del SNC. Sin embargo, la mutación H3 K27M en el glioblastoma «no de línea media» es infrecuente y sus características han sido raramente reportadas. Una niña de 16 años presentó una lesión hiperintensa en el tronco temporal izquierdo en T2WI, FLAIR y DWI. Se realizó una biopsia y el diagnóstico patológico molecular fue de glioblastoma con mutación H3 K27M. En consecuencia, la posibilidad de mutaciones H3 K27M debe examinarse no sólo en el caso de los gliomas difusos que se desarrollan en una localización de la línea media, sino también en gliomas sin mutación de IDH en localizaciones que no son de la línea media entre los pacientes.

Palabras clave:
Glioblastoma
Mutación H3K27M
No línea media

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