The prognostic impact of subclonal IDH1 mutation in grade 2–4 astrocytomas

ABSTRACT: Abstract

Background

Isocitrate dehydrogenase (IDH) mutations are thought to represent an early oncogenic event in glioma evolution, found with high penetrance across tumor cells; however, in rare cases, IDH mutation may exist only in a small subset of the total tumor cells (subclonal IDH mutation).

Methods

We present 2 institutional cases with subclonal IDH1 R132H mutation. In addition, 2 large publicly available cohorts of IDH-mutant astrocytomas were mined for cases harboring subclonal IDH mutations (defined as tumor cell fraction with IDH mutation ≤0.67) and the clinical and molecular features of these subclonal cases were compared to clonal IDH-mutant astrocytomas.

Results

Immunohistochemistry (IHC) performed on 2 institutional World Health Organization grad

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PROVIDER: S-EPMC10263115 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature