A RARE CASE OF PEDIATRIC MN1 ALTERED ASTROBLASTOMA WITH CONCOMITANT ATM
GERMLINE MUTATION
Abstract
Astroblastoma is a rare brain tumor that has recently emerged as a new
entity in the 2021 WHO classification of tumors of the central nervous
system (CNS), based on its peculiar histopathologic feature and
association with MN1 alteration. We report an unique case of
MN1- altered astroblastoma with concomitant ATM germline
mutation. A 10-year-old girl presented with nausea and vomiting due to a
large temporal parietal tumor. Gross total resection was achieved and
the integrated molecular diagnosis of MN1-altered astroblastoma
was made based on DNA methylation profiling. Next-Generation Sequencing
(NGS) confirmed a MN1-BEND2 fusion and germline sequencing
revealed an ATM gene heterozygous pathogenic variant. Radiation
therapy was deferred given the possible association of heterozygous
ATM mutation with increased risk of breast cancer and
radiosensitivity. This case highlights the therapeutic implications of
germline molecular findings in the treatment of astroblastoma and the
need for further investigations to define a more standardized approach
for treating this rare pediatric tumor.