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

Related Articles

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

Childs Nerv Syst. 2017 Jul;33(7):1047-1051

Authors: Ryall S, Guzman M, Elbabaa SK, Luu B, Mack SC, Zapotocky M, Taylor MD, Hawkins C, Ramaswamy V

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.

PMID: 28623522 [PubMed - indexed for MEDLINE]

https://ift.tt/2sGTy7P