In:
Science, American Association for the Advancement of Science (AAAS), Vol. 339, No. 6123 ( 2013-03), p. 1077-1080
Abstract:
We report genomic analysis of 300 meningiomas, the most common primary brain tumors, leading
to the discovery of mutations in TRAF7 , a proapoptotic E3 ubiquitin ligase, in
nearly one-fourth of all meningiomas. Mutations in TRAF7 commonly occurred with
a recurrent mutation (K409Q) in KLF4 , a transcription factor known for its role
in inducing pluripotency, or with AKT1 E17K , a mutation known to
activate the PI3K pathway. SMO mutations, which activate Hedgehog signaling,
were identified in ~5% of non- NF2 mutant meningiomas. These
non- NF2 meningiomas were clinically distinctive—nearly always benign,
with chromosomal stability, and originating from the medial skull base. In contrast, meningiomas with mutant NF2 and/or chromosome 22 loss were more likely to be atypical,
showing genomic instability, and localizing to the cerebral and cerebellar hemispheres. Collectively, these findings identify distinct meningioma subtypes, suggesting avenues for
targeted therapeutics.
Type of Medium:
Online Resource
ISSN:
0036-8075
,
1095-9203
DOI:
10.1126/science.1233009
Language:
English
Publisher:
American Association for the Advancement of Science (AAAS)
Publication Date:
2013
detail.hit.zdb_id:
128410-1
detail.hit.zdb_id:
2066996-3
detail.hit.zdb_id:
2060783-0
SSG:
11
