- Newly Recognized Genetic Tumor Syndromes of the CNS in the 5th WHO Classification: Imaging Overview with Genetic Updates
In this review of the new 5th edition of the WHO classification, the authors focus on imaging and genetic characteristics of 8 new syndromes: Elongator protein complex-medulloblastoma syndrome, BRCA1-associated protein 1 tumor-predisposition syndrome, DICER1 syndrome, familial paraganglioma syndrome, melanoma-astrocytoma syndrome, Carney complex, Fanconi anemia, and familial retinoblastoma.
- Quantification of T2-FLAIR Mismatch in Nonenhancing Diffuse Gliomas Using Digital Subtraction
The T2-FLAIR mismatch sign on MR imaging, usually determined by visual assessment, is a highly specific imaging biomarker of IDH-mutant astrocytomas. The authors of this study quantified the degree of T2-FLAIR mismatch in nonenhancing diffuse gliomas. Thresholds of ≥42% T2-FLAIR mismatch volume classified IDH-mutant astrocytoma with a specificity/sensitivity of 100%/19.6% (TCIA) and 100%/31.6% (institutional). They also found that grades 3–4 compared with grade 2 IDH-mutant astrocytomas (P<.05) had a higher percentage T2-FLAIR mismatch volume.
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