Identification of a putative molecular subtype of adult-type diffuse astrocytoma with recurrent MAPK pathway alterations
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F24%3A10482039" target="_blank" >RIV/00064203:_____/24:10482039 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/24:10482039
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=KdU4zSKf1Y" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=KdU4zSKf1Y</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s00401-024-02766-2" target="_blank" >10.1007/s00401-024-02766-2</a>
Alternative languages
Result language
angličtina
Original language name
Identification of a putative molecular subtype of adult-type diffuse astrocytoma with recurrent MAPK pathway alterations
Original language description
In summary, our investigation has revealed a distinct subtype of adult-type diffuse astrocytoma through DNA methylation profiling, lacking both IDH1/2 mutation or chromosome + 7/-10 signature, but characterized by recurrent alterations within the MAPK pathway and with TERT promoter mutation in 25% of these neoplasms. Given the presence of targetable gene fusions within these tumors, RNA sequencing could be of value. While DNA methylation profiling has emerged as a pivotal tool in identifying novel CNS tumors, it is evident that sole reliance on epigenetic signatures may not be adequate for establishing new tumor types. The histopathological and molecular overlap with IDH-wildtype glioblastoma indicates that recognizing these tumors as an entirely new tumor type is not justified at this stage. This also implies that currently DNA methylation profiling remains the primary method for identifying these tumors, similar to other epigenetically defined tumor types. However, the notable prevalence of targetable MAPK alterations and the slightly more favorable survival rate compared to typical IDH-wildtype glioblastomas suggest that recognizing these tumors, at least provisionally, as a molecular subtype of IDH-wildtype glioblastomas may be valuable. We suggest the term 'diffuse high-grade astrocytoma, MAPK pathway-altered' to describe this molecular subtype of tumors. Further accumulation of cases and data is necessary to substantiate this distinction and understand the full clinical implications.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30109 - Pathology
Result continuities
Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Acta Neuropathologica
ISSN
0001-6322
e-ISSN
1432-0533
Volume of the periodical
148
Issue of the periodical within the volume
1
Country of publishing house
DE - GERMANY
Number of pages
5
Pages from-to
7
UT code for WoS article
001275268700002
EID of the result in the Scopus database
2-s2.0-85199040722