Perinatal hypoxic-ischemic brain injury: What's behind the "ribbon effect"?

Ribbon effect describes a perceived macroscopic color reversal of the gray and white matter, characterized by a pale cortex and diffusely dusky underlying white matter. This finding is thought to be unique to the perinatal period and indicative of hypoxic-ischemic injury. However, the clinical and microscopic correlates of this macroscopic finding have not been clearly defined. A 21-year retrospective study of autopsies was performed. Ribbon effect was seen in 190 subjects, ages 20 weeks gestation to 9.5 months adjusted age. Clinical associations and radiographic findings were similar in ribbon effect cases and controls. A variety of histologic findings were observed including acute neuronal injury, diffuse white matter gliosis, and white matter necrosis. Only white matter vascular congestion was significantly correlated to the macroscopic severity of ribbon effect; the severity of white matter injury and acute neuronal injury were not significantly correlated to ribbon effect. While hypoxic-ischemic changes were present in nearly all cases of ribbon effect, the location, severity, and chronicity of these changes varied considerably, and similar findings were observed in controls. The presence of ribbon effect therefore does not predict microscopic findings apart from vascular congestion, highlighting the importance of microscopic examination in perinatal brain autopsies.

Clinical Evaluation of IDH Mutation Status in Formalin-Fixed Paraffin-Embedded Tissue in Gliomas.

BACKGROUND AND OBJECTIVE: Determination of isocitrate dehydrogenase (IDH) 1/2 mutational status is crucial for a glioma diagnosis. It is common for IDH mutational status to be determined via a two-step algorithm that utilizes immunohistochemistry studies for IDH1 R132H, the most frequent variant, followed by next-generation sequencing studies for immunohistochemistry-negative or immunohistochemistry-equivocal cases. The objective of this study was to evaluate adding a rapid real-time polymerase chain reaction (RT-PCR) assay to the testing algorithm.  METHODS: We validated a modified, commercial, qualitative, RT-PCR assay with the ability to detect 14 variants in IDH1/2 in formalin-fixed paraffin-embedded glioma tumor specimens. The assay was validated using 51 tumor formalin-fixed paraffin-embedded specimens. During clinical implementation of this assay, 48 brain tumor specimens were assessed for IDH result concordance and turnaround time to result. RESULTS: Concordance between the RT-PCR and sequencing and IHC studies was 100%. This RT-PCR assay also showed concordant results with IHC for IDH1 R132H for 11 of the 12 (92%) tumor specimens with IDH mutations. The RT-PCR assay yielded faster results (average 2.6 days turnaround time) in comparison to sequencing studies (17.9 days), with complete concordance. CONCLUSIONS: In summary, we report that this RT-PCR assay can reliably be performed on formalin-fixed paraffin-embedded specimens and has a faster turnaround time than sequencing assays and can be clinically implemented for determination of IDH mutation status for patients with glioma.