Genomics

Dataset Information

0

Molecular profiling reclassifies adult astroblastoma into known and clinically distinct tumor entities with frequent MAPK pathway alterations


ABSTRACT: Aims and methods: astroblastoma is a rare glial brain tumor with singular morphology. Recurrent MN1-BEND2 fusions have been recently identified in most of pediatric cases. Adolescent and adult cases, however, remain molecularly poorly defined. Here, we performed clinical and molecular characterization of a retrospective cohort of 14 adult and one adolescent gliomas with astroblastic features. Results: strikingly, we found MN1 fusions a rare event in this age group (1/15). Using methylation profiling and targeted sequencing, most cases were reclassified as either pleomorphic xanthoastrocytomas (PXA) or high-grade glioma (HGG). PXA-like ABM show BRAF mutation (6/7 with V600E mutation and 1/7 with G466E mutation) and CD34 expression. Conversely, HGG-like ABM harbored specific mutations of diffuse midline glioma (2/5) or glioblastoma (3/5). These latter patients showed an unfavorable clinical course with significantly shorter overall survival (p = 0.027). MAPK pathway alterations (including FGFR fusion, BRAF and NF1 mutations) were present in 10 of 15 patients and overrepresented in the HGG group (3/5) compared to previously reported prevalence of these alterations in GBM and diffuse midline glioma.

PROVIDER: EGAS00001003798 | EGA |

REPOSITORIES: EGA

Similar Datasets

2019-03-22 | E-MTAB-7490 | biostudies-arrayexpress
2020-12-08 | GSE161944 | GEO
2024-05-09 | GSE211074 | GEO
2010-06-15 | E-GEOD-19578 | biostudies-arrayexpress
2010-06-16 | GSE19578 | GEO
2017-08-11 | GSE99045 | GEO
2013-11-06 | E-GEOD-46190 | biostudies-arrayexpress
2024-02-28 | GSE245674 | GEO
| PRJNA622566 | ENA
| 2158616 | ecrin-mdr-crc