Genetic mutation has served as the biomarkers for the diagnosis and treatment of glioblastoma multiforme (GBM). However, intra-tumor heterogeneity may interfere with personalized treatment strategies based on mutation analysis. This study aimed to characterize somatic mutation profiling of GBM. We collected 33 samples from 7 patients with the primary GBM associated with different Choline (Cho) to N-acetylaspartate (NAA) index (CNI) through the frameless proton magnetic resonance spectroscopy (1H-MRS) guided biopsies and investigated multiple somatic mutations profiling using the AmpliSeq cancer hotspot panel V2. We identified 53 missense or nonsense mutations in 27 genes including some novel mutations such as APC and IDH2. The mutations in EGFR, TP53, PTEN, PIK3CA genes were presented with different frequency and the majority of the mutated gene was only shared by 1-2 samples from one patient. Moreover, we found the association of CNI with histological grade, but there was no significant change of CNI in the presence of TP53, EGFR and PTEN mutations. These data suggest that gene mutations constitute a heterogeneous marker for primary GBM which may be independent of intra-tumor morphological phenotypes of GBM; therefore, gene mutation markers could not be determined from a small number of needle biopsies or only confined to the high-grade region.

OBJECTIVE:This study evaluated the localization precision of 256-channel dense array electroencephalographic source imaging (dESI) in comparison to conventional noninvasive tools. In addition, the study was designed to analyze the relationship between the 256-channel dESI source patterns and surgical outcome. METHODS:Forty-three patients with temporal lobe epilepsy (TLE) who underwent one-stage resective surgeries were recruited in this study. We compared dESI with other noninvasive evaluation methods by comparing results with resections that eliminate or significantly reduced seizures according to sub-lobule and lobule criteria. Sensitivity and specificity of multiple evaluation methods were calculated. Kaplan-Meier analysis was performed to evaluate the relationship between source patterns and surgical outcome. RESULTS:dESI showed the best sensitivity (sub-lobule, 91.4%; lobule, 97.1%) and specificity (75%) for both sub-lobule and lobule criteria. The Kaplan-Meier survival analysis showed that cases with "single source" had better prognosis than with "multiple sources" (p<0.05); cases of "sources within resection" showed better surgical prognosis than cases of "sources outside resection" (p<0.05). CONCLUSION:In this study, 256-channel dESI provided a higher clinical yield than the other most broadly used noninvasive presurgical workup tools. dESI results with "single source" correlated strongly to good prognosis, while cases with "multiple sources" may cautiously be considered as candidates for one-stage resective surgeries. The resection of the irritative zone identified by interictal epileptiform discharges (IEDs) was related to good surgical prognosis in TLE. SIGNIFICANCE:In the presurgical workup of TLE, the clinical yield of 256-channel dESI is high. Patterns of dESI results are related to surgical prognosis, and they can be instructive for presurgical planning. The resection of the irritative zone can be related to good surgical prognosis in TLE.

We report surgical treatment and radiotherapy of an extremely rare case of malignant epidermoid cyst located in cerebellopontine angle. MRI and CT demonstrated the lesion with partial enhancement and calcification. During operation, we found the tumor attached tightly to surrounding tissue. Finally we achieved near total resection of it. Histopathology confirmed the diagnosis of epidermoid cyst with malignant transformation. With adjuvant radiotherapy, the patient underwent excellent recovery, and follow-up MRI demonstrated no obvious residue or recurrence of the tumor. Malignant epidermoid cyst can be diagnosed radiologically in combination with clinical presentation. Maximal removal plus adjuvant radiotherapy is the treatment of choice, although the general prognosis of it is poor.

Introduction: Using retrospective and comparative methods, we aim to discuss the surgical treatment of magnetic resonance imaging (MRI)-negative temporal lobe epilepsy (TLE) presented with positive positron emission tomography (PET) results. Methods: From the viewpoint of semiology, demography, surgical treatment and prognosis evaluation, we compared 19 MRI-negative, PET-positive TLE patients to 41 TLE with hippocampal sclerosis patients, and then statistically analyzed the differences between these 2 cohorts. Results: Under intraoperative electrocorticography monitoring, all patients underwent successful standard anterior temporal lobectomy. It appears that there is no significant difference between the surgical outcome of MRI-negative/PET-positive TLE (Engle class I: 68.4%, Engle class I + II: 84.2%) and TLE with hippocampal sclerosis (Engle class I: 68.3%, Engle class I + II: 80.5%). The analysis also shows that to some extent MRI-negative, PET-positive TLE might be distinct from TLE with hippocampal sclerosis as a clinical entity, i.e. the former is not a subtype of the latter. History of febrile convulsion and occurrence of secondary generalized tonic-clonic seizure may possibly differentiate them from each other. Conclusion: Successful resective surgery of MRI-negative TLE based on PET can yield similar favorable results to TLE with hippocampal sclerosis. This study demonstrates that with reasonable presurgical workup, such TLE subtypes can be surgically treated without invasive intracranial electrode implantation.

Aim. Mesial temporal extraventricular neurocytoma (mtEVN) is a rare cause of refractory complex focal seizures. The characteristics of this clinical entity are discussed in this article. Methods. We report two cases of mtEVN and review the related literature, with particular emphasis on radiological characteristics, clinical features, and operative techniques. Results. After successful surgery, our two cases of mtEVN achieved excellent outcome. Including the cases presented here, a total of three cases of mtEVNs and 11 of neocortical temporal extraventricular neurocytoma (ntEVNs) are reported in the literature. mtEVNs are distinct from ntEVNs with regards to demographics, aetiology, radiological features, and operative techniques. Conclusion. mtEVNs and ntEVNs exhibit distinguishing features. Under electrocorticographic monitoring, tailored resection of the neocortical epileptogenic focus, as well as the entire tumour and mesial temporal structures, can yield excellent outcome and satisfactory seizure control.

Aim To investigate the clinical characteristics and surgical prognosis of magnetic resonance imaging(MRI) negative(i.e.no obvious anomaly on MRI),positron emission tomography(PET) positive(i.e.unilateral temporal hypometabolism on PET) temporal lobe epilepsy(TLE).Methods The semiology,structural and functional imaging,demography,clinical characteristics and surgical outcome of 18 cases of MRI negative,PET positive TLE were analyzed.Results After successful standard anterior temporal lobectomy(sATL) under the intraoperative electrocorticography(ECoG) monitoring,the prognosis of the cases with MRI negative,PET positive TLE were excellent.After operation,the patients who achieved Engel grade I outcome accounted for 66.7% and grade I+II for 83.4%.Conclusion After comprehensive presurgical evaluation including EEG study and successful sATL,the cases with MRI negative,PET positive TLE are surgically treatable,showing excellent long-term prognosis.