Acta Neuropathologica: In a series of 83 diffuse midline gliomas with H3F3A K27M mutations, FGFR1 mutations were associated with better prognosis

Diffuse midline glioma (DMG) refers to high-level gliomas that occur in the median structures of the terpenes, tricephalus, the pasum and the brain trunk.
the cause of the disease and the characteristics of immersive growth, treatment difficulties, the prognosis is very poor.
2016 WHO Central Nervous System Tumor Classification Standard classifys diffuse midline gliomas as level IV.
these tumors contain a variety of pathological types, of which the H3K27M gene mutation is the most common genetic change in childhood diffuse endogenetic bridge glioma.
over time, we observed individual DMG cases accompanied by mutations within FGFR1 or BRAF.
FGFR1 and BRAF mutations are typical characteristics of low-grade gliomas, such as hair cell star cell tumors, gliomas, or neurostetheliomas with poor embryonic development.
, parallel occurrences of H3 and FGFR1/BRAF mutations in a single tumor may complicate diagnostic decisions for low- or high-level gliomas, but are also clinically significant.
presence of changes in the MAPK pathfage, such as FGFR1 or BRAF mutations, may open up new possibilities for targeted therapy, which is independent of tumor classification.
to better understand the frequency and effects of this mutation, this study analyzed 83 cases of DMG of H3F3A K27M mutation.
1 case (1.2%) showed BRAF mutation and 9/83 cases (10.8%) showed FGFR1 mutation.
mutation rates of NF1, TP53 and ATRX were 31.8%, 51.4% and 35.2%, respectively.
TP53 mutation was significantly associated with the wild state of FGFR1.
similar to cases of FGFR1 WT, cases of FGFR1 mutations are diffuse growth gliomas, increased cell count and signs of interdational degeneration, such as increased cell polygonality, filamentation, or angioplation.
addition, all analyzed FGFR1-MU cases (and BRAF-MU cases) matched the methylation category "DMG, H3-K27M Mutants".
, the results of this paper suggest that RAS-MAPK path signals may play an important role in DMG and may have an impact on patient diagnosis, prognosis and treatment.
Schüller, U., Iglauer, P., Dorostkar, M.M. et al. Mutations within FGFR1 are associated with superior outcome in a series of 83 diffuse midline gliomas with H3F3A K27M mutations. Acta Neuropathol (2021). MedSci Original Source: MedSci Original Copyright Notice: All text, images and audio and video materials on this website that indicate "Source: Mets Medicine" or "Source: MedSci Original" are owned by Mets Medicine and are not authorized to be reproduced by any media, website or individual, and are authorized to be reproduced with the words "Source: Mets Medicine".
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