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Professional Technical In the Industry Vocabulary Test

IDH mutation

Genetic alteration in isocitrate dehydrogenase genes (IDH1/IDH2) that serves as a key diagnostic marker in brain tumor classification.

Full Definition

IDH mutation refers to genetic alterations in isocitrate dehydrogenase genes (IDH1 or IDH2) that are crucial biomarkers in the molecular classification of brain tumors. These mutations are particularly important in distinguishing primary from secondary glioblastomas and are associated with better prognosis. The presence of IDH mutation significantly influences treatment decisions and is now integrated into the WHO classification system for central nervous system tumors.

Usage

Usage note: Always specify IDH1 or IDH2 when known; avoid using as a standalone diagnostic term.

In Context

  • "The pathology report indicated IDH mutation status as positive, supporting the diagnosis of secondary glioblastoma." — Neuropathology report
  • "IDH-mutant astrocytomas generally have a more favorable prognosis than their wild-type counterparts." — Clinical communication

Also known as

isocitrate dehydrogenase mutation

Contrasted with

IDH wild-type

Don't confuse with

ATRX mutation TP53 mutation

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