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Published in: Child's Nervous System 7/2017

01-07-2017 | Brief Communication

H3 K27M mutations are extremely rare in posterior fossa group A ependymoma

Authors: Scott Ryall, Miguel Guzman, Samer K. Elbabaa, Betty Luu, Stephen C. Mack, Michal Zapotocky, Michael D. Taylor, Cynthia Hawkins, Vijay Ramaswamy

Published in: Child's Nervous System | Issue 7/2017

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Abstract

Background

Mutations in the tail of histone H3 (K27M) are frequently found in pediatric midline high-grade glioma’s but have rarely been reported in other malignancies. Recently, recurrent somatic nucleotide variants in histone H3 (H3 K27M) have been reported in group A posterior fossa ependymoma (EPN_PFA), an entity previously described to have no recurrent mutations. However, the true incidence of H3 K27M mutations in EPN_PFA is unknown.

Methods

In order to discern the frequency of K27M mutations in histone H3 in EPN_PFA, we analyzed 151 EPN_PFA previously profiled with genome-wide methylation arrays using a validated droplet digital PCR assay.

Results

We identified only 1 case out of 151 EPN_PFA harboring the K27M mutation indicating that histone mutations are extremely rare in EPN_PFA. Morphologically, this single mutated case is clearly consistent with an ependymoma, and the presence of the K27M mutation was confirmed using immunohistochemistry.

Discussion

K27M mutations are extremely rare in EPN_PFA. Routine evaluation of K27M mutations in EPN_PFA is of limited utility, and is unlikely to have any bearing on prognosis and/or future risk stratification.
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Metadata
Title
H3 K27M mutations are extremely rare in posterior fossa group A ependymoma
Authors
Scott Ryall
Miguel Guzman
Samer K. Elbabaa
Betty Luu
Stephen C. Mack
Michal Zapotocky
Michael D. Taylor
Cynthia Hawkins
Vijay Ramaswamy
Publication date
01-07-2017
Publisher
Springer Berlin Heidelberg
Published in
Child's Nervous System / Issue 7/2017
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI
https://doi.org/10.1007/s00381-017-3481-3

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