The Role of the Three-Dimensional Edge-Enhancing Gradient Echo Sequence at 3T MRI in the Detection of Focal Cortical Dysplasia: A Technical Case Report and Literature Review.

INTRODUCTION: Focal cortical dysplasia (FCD) is a most common cause of intractable focal epilepsy in children. Surgery is considered as a radical option for such patients with the prerequisite of lesion detection. Magnetic resonance imaging (MRI) plays a significant role in detection of FCDs in epilepsy patients; however, the detection of FCDs even in epilepsy dedicated MRI sequence shows relatively low positive rate. Last year, Middlebrooks et al introduced the novel three-dimensional Edge-Enhancing Gradient Echo (3D-EDGE) MRI sequence and using this sequence successfully identified five cases of FCDs which indicates its potential role in those epilepsy patients who may have FCDs. CASE PRESENTATION: We present a 14-year-old, right-handed, male patient who has suffered from drug-resistant epilepsy over the past 3 years. It was unable to localize the lesion of the seizure, even using the series of epilepsy dedicated MRI sequences. Inspired by the previous report, the lesion of the seizure was successfully targeted by 3D-EDGE sequence. Combined with intraoperative navigation and precisely removed the lesion. He was uneventfully recovered with no signs of cerebral dysfunction and no seizure recurrence 8 months after surgery. CONCLUSION: The 3D-EDGE sequences show a higher sensitivity for FCD detection in epilepsy patients compared with a series of epilepsy-dedicated MRI protocols. We confirmed that the study by Middlebrooks et al is of great clinical value. If the findings on routine MRI sequences or even epilepsy-dedicated MRI sequences were reported as negative, however, the semiology, video-electroencephalography, and fluorodeoxyglucose-positron emission tomography results suggest a local abnormality, and the results are concordant with each other, a 3D-EDGE sequence may be a good option.

Identification and validation of a novel eight mutant-derived long non-coding RNAs signature as a prognostic biomarker for genome instability in low-grade glioma.

Long non-coding RNAs (lncRNAs) comprise an integral part of the eukaryotic transcriptome. Alongside proteins, lncRNAs modulate lncRNA-based gene signatures of unstable transcripts, play a crucial role as antisense lncRNAs to control intracellular homeostasis and are implicated in tumorigenesis. However, the role of genomic instability-associated lncRNAs in low-grade gliomas (LGG) has not been fully explored. In this study, lncRNAs expression and somatic mutation profiles in low-grade glioma genome were used to identify eight novel mutant-derived genomic instability-associated lncRNAs including H19, FLG-AS1, AC091932.1, AC064875.1, AL138767.3, AC010273.2, AC131097.4 and ISX-AS1. Patients from the LGG gene mutagenome atlas were grouped into training and validation sets to test the performance of the signature. The genomic instability-associated lncRNAs signature (GILncSig) was then validated using multiple external cohorts. A total of 59 novel genomic instability-associated lncRNAs in LGG were used for least absolute shrinkage and selection operator (Lasso), single and multifactor Cox regression analysis using the training set. Furthermore, the independent predictive role of risk features in the training and validation sets were evaluated through survival analysis, receiver operating feature analysis and construction of a nomogram. Patients with IDH1 mutation status were grouped into two different risk groups based on the GILncSig score. The low-risk group showed a relatively higher rate of IDH1 mutations compared with patients in the high-risk group. Furthermore, patients in the low-risk group had better prognosis compared with patients in the high-risk group. In summary, this study reports a reliable prognostic prediction signature and provides a basis for further investigation of the role of lncRNAs on genomic instability. In addition, lncRNAs in the signature can be used as new targets for treatment of LGG.