A juvenile case of epilepsy‐associated, isocitrate dehydrogenase wild‐type/histone 3 wild‐type diffuse glioma with a rare <scp><i>BRAF</i><sup>A598T</sup></scp> mutation

Sadashima, Shoko; Suzuki, Satoshi; Haruyama, Hironori; Mukae, Nobutaka; Fujioka, Yutaka; Hata, Nobuhiro; Mizoguchi, Masahiro; Ishimatsu, Keisuke; Hiwatashi, Akio; Iwaki, Toru

doi:10.1111/neup.12693

Cited by 3 publications

(3 citation statements)

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“…The patient underwent amygdalohippocampectomy with anterior temporal lobectomy to include the tumor and obtained a good seizure outcome (Engel class IA). 16 Histological diagnosis of the tumor was polymorphous low-grade neuroepithelial tumor of the young, 17,18 while hippocampal sclerosis was not demonstrated.…”

Section: Patientmentioning

confidence: 99%

Simultaneous Electroencephalographic and Electocorticographic Recordings of Lateralized Periodic Discharges in Temporal Lobe Epilepsy

et al. 2020

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Objective Lateralized periodic discharges (LPDs), which constitute an abnormal electroencephalographic (EEG) pattern, are most often observed in critically ill patients with acute pathological conditions, and are less frequently observed in chronic conditions such as focal epilepsies, including temporal lobe epilepsy (TLE). Here we aim to explore the pathophysiological mechanism of LPD in TLE. Methods We retrospectively selected 3 patients with drug-resistant TLE who simultaneously underwent EEG and electrocorticography (ECoG) and demonstrated LPDs. We analyzed the correlation between the EEG and ECoG findings. Results In patients 1 and 2, LPDs were recorded in the temporal region of the scalp during the interictal periods, when repeated spikes followed by slow waves (spike-and-wave complexes; SWs) and periodic discharges (PDs) with amplitudes of >600 to 800 µV appeared in the lateral temporal lobe over a cortical area of >10 cm2. In patient 3, when the ictal discharges persisted and were confined to the medial temporal lobe, repeated SWs were provoked on the lateral temporal lobe. When repeated SWs with amplitudes of >800 µV appeared in an area of the lateral temporal lobe of >10 cm2, the corresponding EEG discharges appeared on the temporal scalp. Conclusions LPDs in patients with TLE originate from repeated SWs and PDs of the lateral temporal lobe, which might represent a highly irritable state of the lateral temporal cortex during both interictal and ictal periods.

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Section: Patientmentioning

confidence: 99%

Simultaneous Electroencephalographic and Electocorticographic Recordings of Lateralized Periodic Discharges in Temporal Lobe Epilepsy

et al. 2020

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“…The BRAF p.A598T mutation has been reported in lung adenocarcinoma [35], thyroid tissue adjacent to the papillary thyroid carcinoma [36] and in gliomas [37], but never previously in melanoma. The BRAF p.A598T mutation is located at the activation segment of the kinase domain and is predicted to induce a loss-of-function effect of the kinase [34].…”

Section: Discussionmentioning

confidence: 99%

Clinical characteristics and treatment outcomes of non-V600 E/K BRAF mutant melanoma patients: a single-institution experience

et al. 2022

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The widespread use of more sensitive detection tools, such as next-generation sequencing, has increased the identification of a variety of BRAF mutations other than V600E/K in melanoma patients. However, there is a lack of established data regarding the efficacy of BRAF/MEK inhibitors and immune-checkpoint immune inhibitors (ICI) for these patients. We performed a retrospective study, including all the patients diagnosed with stage III or IV melanoma that were referred to the University Hospital of Bologna from 2011 to 2021, carrying a non-V600E or V600K mutation of BRAF and who were started on systemic treatment. We found 14 patients with stage III or IV melanoma harboring the following BRAF mutations: V600R, V600_K601delinsE, K601E, p.T599_V600insT, L597V, G466R, S467L, and A598T. Of note, G466R and A598T BRAF mutations have never been previously reported in melanoma. Four patients received combined BRAF/MEK inhibitors, two patients BRAF inhibitor monotherapy, and six patients were treated with ICI for advanced melanoma; four patients received adjuvant treatment with nivolumab. Given the few cases and the absence of randomized clinical trials, it is important to report clinical experiences, which can guide physicians in the treatment of melanomas harboring rare BRAF mutations. Melanoma Res 32: 477-484

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“…The tumor was histologically diagnosed with a polymorphous low-grade neuroepithelial tumor. 9 Hippocampal sclerosis was not observed.…”

Section: Case Reportmentioning

confidence: 91%

Reflection of the Ictal Electrocorticographic Discharges Confined to the Medial Temporal Lobe to the Scalp-Recorded Electroencephalogram

et al. 2021

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Objective: Previous reports on the simultaneous recording of electroencephalography (EEG) and electrocorticography (ECoG) have demonstrated that, in patients with temporal lobe epilepsy (TLE), ictal ECoG discharges with an amplitude as high as 1000 μV originating from the medial temporal lobe could not be recorded on EEG. In contrast, ictal EEG discharges were recorded after ictal ECoG discharges propagated to the lateral temporal lobe. Here, we report a case of TLE in which the ictal EEG discharges, corresponding to ictal ECoG discharges confined to the medial temporal lobe, were recorded. Case report: In the present case, ictal EEG discharges were hardly recognized when the amplitude of the ECoG discharges was less than 1500 μV. During the evolution and burst suppression phase, corresponding to highly synchronized ECoG discharges with amplitudes greater than 1500 to 2000 μV, rhythmic negative waves with the same frequency were clearly recorded both on the lateral temporal lobe and scalp. The amplitude of the lateral temporal ECoG was approximately one-tenth of that of the medial temporal ECoG. The amplitude of the scalp EEG was approximately one-tenth of that of the lateral temporal ECoG. Conclusions: Highly synchronized ictal ECoG discharges with high amplitude of greater than 1500 to 2000 μV in the medial temporal lobe could be recorded on the scalp as ictal EEG discharges via volume conduction.

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A juvenile case of epilepsy‐associated, isocitrate dehydrogenase wild‐type/histone 3 wild‐type diffuse glioma with a rare BRAF^A598T mutation

Cited by 3 publications

References 22 publications

Simultaneous Electroencephalographic and Electocorticographic Recordings of Lateralized Periodic Discharges in Temporal Lobe Epilepsy

Simultaneous Electroencephalographic and Electocorticographic Recordings of Lateralized Periodic Discharges in Temporal Lobe Epilepsy

Clinical characteristics and treatment outcomes of non-V600 E/K BRAF mutant melanoma patients: a single-institution experience

Reflection of the Ictal Electrocorticographic Discharges Confined to the Medial Temporal Lobe to the Scalp-Recorded Electroencephalogram

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A juvenile case of epilepsy‐associated, isocitrate dehydrogenase wild‐type/histone 3 wild‐type diffuse glioma with a rare BRAFA598T mutation

Cited by 3 publications

References 22 publications

Simultaneous Electroencephalographic and Electocorticographic Recordings of Lateralized Periodic Discharges in Temporal Lobe Epilepsy

Simultaneous Electroencephalographic and Electocorticographic Recordings of Lateralized Periodic Discharges in Temporal Lobe Epilepsy

Clinical characteristics and treatment outcomes of non-V600 E/K BRAF mutant melanoma patients: a single-institution experience

Reflection of the Ictal Electrocorticographic Discharges Confined to the Medial Temporal Lobe to the Scalp-Recorded Electroencephalogram

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A juvenile case of epilepsy‐associated, isocitrate dehydrogenase wild‐type/histone 3 wild‐type diffuse glioma with a rare BRAF^A598T mutation