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Astroblastoma (AB) is a rare CNS tumor demonstrating abundant  astroblastomatous pseudorosettes.  Its molecular features have not been comprehensively studied and its status as a tumor entity is controversial. We analyzed a cohort of 27 histologically-defined ABs using DNA methylation profiling, copy number analysis, FISH and site-directed sequencing. Most cases demonstrated mutually exclusive  MN1  rearrangements ( n  = 10) or  BRAF   V600E   mutations ( n  = 7). Two additional cases harbored  RELA  rearrangements. Other cases lacked these specific genetic alterations ( n  = 8). By DNA methylation profiling, tumors with  MN1  or  RELA  rearrangement clustered with high-grade neuroepithelial tumor with MN1 alteration (HGNET-MN1) and  RELA -fusion ependymoma, respectively. In contrast,  BRAF   V600E  -mutant tumors grouped with pleomorphic xanthoastrocytoma (PXA). Six additional tumors clustered with either supratentorial pilocytic astrocytoma and ganglioglioma (LGG-PA/GG-ST), normal or reactive cerebrum, or with no defined DNA methylation class. While certain histologic features favored one genetic group over another, no group could be reliably distinguished by histopathology alone. Survival analysis between genetic AB subtypes was limited by sample size, but showed that  MN1 -rearranged AB tumors were characterized by better overall survival compared to other genetic subtypes, in fact, significantly better than  BRAF   V600E  -mutant tumors ( P  = 0.013). Our data confirm that histologically-defined ABs are molecularly heterogeneous and do not represent a single entity. They rather encompass several low- to higher-grade glial tumors including neuroepithelial tumors with MN1 rearrangement, PXA-like tumors, RELA ependymomas, and possibly yet uncharacterized lesions. Genetic subtyping of tumors exhibiting AB histology, particularly determination of  MN1  and  BRAF   V600E   status, is necessary for important prognostic and possible treatment implications.   Electronic supplementary material  The online version of this article (10.1186/s40478-019-0689-3) contains supplementary material, which is available to authorized users.

acta neuropathologica communications

Genomic analysis demonstrates that histologically-defined astroblastomas are molecularly heterogeneous and that tumors with MN1 rearrangement exhibit the most favorable prognosis