Bridging Radiology and Pathology: ATRX Loss and T2-FLAIR Mismatch as Early Diagnostic and Prognostic Markers in Diffuse Gliomas

ATRX mutation and the T2-FLAIR mismatch sign have emerged as complementary molecular and imaging markers in diffuse gliomas. ATRX loss defines IDH-mutant astrocytoma at the molecular level, while the mismatch sign provides a non-invasive radiological clue with high specificity but limited sensitivity. Used together, they improve diagnostic precision, refine prognostic assessment, and guide individualized treatment planning. together bridge genetic alterations with radiological phenotype in diffuse gliomas. ATRX loss reflects disruptions in chromatin regulation and telomere maintenance, frequently via the alternative lengthening of telomeres (ALT) pathway, thereby delineating a distinct subset of astrocytic tumours. Conversely, the T2-FLAIR mismatch sign, characterized by uniform T2 hyperintensity with central FLAIR suppression, offers high specificity for IDH-mutant, 1p/19q non-codeleted astrocytomas and provides a non-invasive correlate of tumour architecture. When integrated, these markers improve diagnostic precision, guide biopsy planning, and offer prognostic insights; however, their utility is limited by variability in expression and imaging reliability, necessitating further validation. This review explores their interplay and independent occurrence, emphasizing their potential to refine early diagnosis and prognostication in gliomas.