H3 K27M Mutations in Thalamic Pilocytic Astrocytomas with Anaplasia.
Anaplasia
Chemotherapy
H3 K27M mutation
Pilocytic astrocytoma
Radiation
Surgery
Thalamic
Journal
World neurosurgery
ISSN: 1878-8769
Titre abrégé: World Neurosurg
Pays: United States
ID NLM: 101528275
Informations de publication
Date de publication:
Apr 2019
Apr 2019
Historique:
received:
31
08
2018
revised:
14
12
2018
accepted:
17
12
2018
medline:
15
1
2019
pubmed:
15
1
2019
entrez:
15
1
2019
Statut:
ppublish
Résumé
The revised World Health Organization classification of central nervous system tumors, published in 2016, has recognized the H3 K27M mutation as a critical genetic signature defining a new group of infiltrative astrocytomas designated as diffuse midline glioma, H3 K27M mutant. Although most H3 K27M mutations arise in the setting of diffusely infiltrative tumors, there are rare reports of compact tumors with low-grade histologic features harboring this mutation. The prevalence and clinical significance of this mutation in pilocytic astrocytomas remain unclear. We report 2 young adult patients with H3 K27M-mutated thalamic pilocytic astrocytomas who presented to medical attention with symptomatic hydrocephalus requiring urgent intervention. We present our experience with this unusual tumor and recommend a treatment paradigm of maximal safe surgical resection followed by chemotherapy and radiation. Stereotactic biopsies may undergrade some adult thalamic pilocytic astrocytomas. Therefore, we recommend that all these tumors be evaluated for the H3 K27M mutation. Further, we think H3 K27M-mutant thalamic pilocytic astrocytomas require aggressive multimodality treatment and these treatments should be guided by the molecular findings, as opposed to the histologic ones.
Sections du résumé
BACKGROUND
BACKGROUND
The revised World Health Organization classification of central nervous system tumors, published in 2016, has recognized the H3 K27M mutation as a critical genetic signature defining a new group of infiltrative astrocytomas designated as diffuse midline glioma, H3 K27M mutant. Although most H3 K27M mutations arise in the setting of diffusely infiltrative tumors, there are rare reports of compact tumors with low-grade histologic features harboring this mutation. The prevalence and clinical significance of this mutation in pilocytic astrocytomas remain unclear.
CASE DESCRIPTION
METHODS
We report 2 young adult patients with H3 K27M-mutated thalamic pilocytic astrocytomas who presented to medical attention with symptomatic hydrocephalus requiring urgent intervention. We present our experience with this unusual tumor and recommend a treatment paradigm of maximal safe surgical resection followed by chemotherapy and radiation.
CONCLUSIONS
CONCLUSIONS
Stereotactic biopsies may undergrade some adult thalamic pilocytic astrocytomas. Therefore, we recommend that all these tumors be evaluated for the H3 K27M mutation. Further, we think H3 K27M-mutant thalamic pilocytic astrocytomas require aggressive multimodality treatment and these treatments should be guided by the molecular findings, as opposed to the histologic ones.
Identifiants
pubmed: 30639498
pii: S1878-8750(19)30015-4
doi: 10.1016/j.wneu.2018.12.147
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
87-92Informations de copyright
Copyright © 2019 Elsevier Inc. All rights reserved.