A case report on IDH-mutant astrocytoma, CNS WHO grade 4: multi-omic characterization of untreated clinical progression.

ABSTRACT:

Background

The natural history of untreated IDH-mutant astrocytoma, CNS WHO grade 2, progressing to astrocytoma grade 4 remains poorly characterized.

Methods

A 67-year-old woman with a histologically confirmed grade 2 astrocytoma developed a spatially adjacent grade 4 lesion after eight years without therapeutic intervention. Tumor tissue and peripheral blood were analyzed using integrated genomic, transcriptomic, and immune profiling.

Results

The central region retained grade 2 histology, while the peripheral region exhibited grade 4 features. Both shared mutations in IDH1, TP53, and ATRX, with highly concordant methylation patterns. The grade 4 lesion uniquely acquired mutations in CIC, BRCA2, and RPA4, and showed a 70% incr

SUBMITTER: Tang X 

PROVIDER: S-EPMC12511056 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature