Publications by authors named "Junya Fukai"

Article Synopsis
  • The study investigates treatment options and costs for malignant brain tumors (GBM and PCNSL) in Japan through a survey of 47 institutions.
  • For GBM, the most common treatment is 'Surgery + radiotherapy with temozolomide', costing approximately 7.50 million JPY, with additional treatments raising costs significantly.
  • PCNSL treatments, especially R-MPV therapy, also incur high costs, with some regimens exceeding 1 million JPY per month, highlighting the need for better cost-effectiveness assessments in future health studies.
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This study aims to elucidate the clinical and molecular characteristics, treatment outcomes and prognostic factors of patients with histone H3 K27-mutant diffuse midline glioma. We retrospectively analyzed 93 patients with diffuse midline glioma (47 thalamus, 24 brainstem, 12 spinal cord and 10 other midline locations) treated at 24 affiliated hospitals in the Kansai Molecular Diagnosis Network for CNS Tumors. Considering the term "midline" areas, which had been confused in previous reports, we classified four midline locations based on previous reports and anatomical findings.

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Background: The study aims to explore MRI phenotypes that predict glioblastoma's (GBM) methylation status of the promoter region of gene (pMGMT) by qualitatively assessing contrast-enhanced T1-weighted intensity images.

Methods: A total of 193 histologically and molecularly confirmed GBMs at the Kansai Network for Molecular Diagnosis of Central Nervous Tumors (KANSAI) were used as an exploratory cohort. From the Cancer Imaging Archive/Cancer Genome Atlas (TCGA) 93 patients were used as validation cohorts.

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Article Synopsis
  • Primary central nervous system lymphoma (PCNSL) is a type of lymphoma treated primarily with methotrexate (MTX), and the treatment outcomes at neurosurgery versus hematology/oncology departments had not been previously compared.
  • In a study of 26 newly diagnosed PCNSL patients, those treated in the hematology/oncology department had a significantly higher median relative dose intensity (93% vs. 67%) and a greater complete response rate compared to those treated in neurosurgery.
  • The 2-year overall survival rate was notably better in the hematology/oncology group (100%) compared to the neurosurgery group (72%), suggesting differences in
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Isolated fourth ventricle is a rare complication following shunt insertion of the lateral ventricles for hydrocephalus. The present report describes a rare case of a hemangioblastoma of the medulla oblongata that caused isolated fourth ventricle due to intraventricular deposition of fibrin. A 34-year-old man presented with headache a month before admission.

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Purpose: Here, we investigated expression modules reflecting the reciprocal expression of the cancer microenvironment and immune response-related genes associated with poor prognosis in primary central nervous system lymphoma (PCNSL).

Methods: Weighted gene coexpression network analysis revealed representative modules, including neurogenesis, immune response, anti-virus, microenvironment, gene expression and translation, extracellular matrix, morphogenesis, and cell adhesion in the transcriptome data of 31 PCNSL samples. RESULTS : Gene expression networks were also reflected by protein-protein interaction networks.

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Article Synopsis
  • - Intracranial germ cell tumors (IGCTs) are rare brain tumors mostly affecting children and adolescents, especially in East Asian populations, and this study investigates their genetic background in a Japanese cohort.
  • - A specific genetic variant (rs3831846), a 4-bp deletion near the BAK1 gene, is linked to an increased risk of developing IGCTs, as shown by a genome-wide association study comparing 133 patients to 762 controls.
  • - The findings indicate that variants associated with testicular germ cell tumors in Europeans also show similar effects in Japanese IGCT patients, highlighting a shared genetic vulnerability across different populations and types of germ cell tumors.
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To assess the clinicopathological features and prognostic factors of pediatric intracranial ependymomas and to explore the current diagnostic practice, we analyzed clinical data from the Brain Tumor Registry of Japan (BTRJ). Data of fifty children under 18 years of age diagnosed with intracranial ependymoma were extracted from the BTRJ database. Cases were reviewed for overall survival (OS) and progression-free survival (PFS), with attention to gender, preoperative Karnofsky performance status score, location of the tumor, the extent of resection, World Health Organization (WHO) histopathological grading, and adjuvant therapy.

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Background: Small-cell carcinoma of the urinary bladder (SCCB) accounts for 1% of all bladder tumors. We present a rare case of hemorrhagic metastatic brain tumor from SCCB diagnosed by navigation-guided endoscopic biopsy.

Case Description: A 76-year-old man presented with sudden onset of aphasia and right hemiplegia from 3 weeks previously.

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Background: Cerebrospinal fluid (CSF) cytology and spinal MR imaging are routinely performed for staging before treatment of intracranial germinoma. However, the interpretation of the results of CSF cytology poses 2 unresolved clinical questions: (1) Does positive CSF cytology correlate with the presence of spinal lesion before treatment? and (2) Is craniospinal irradiation (CSI) necessary for patients with positive CSF cytology in the absence of spinal lesion?

Methods: Multicenter retrospective analyses were performed based on a questionnaire on clinical features, spinal MR imaging finding, results of CSF cytology, treatments, and outcomes which was sent to 86 neurosurgical and 35 pediatrics departments in Japan. Pretreatment frequencies of spinal lesion on MR imaging were compared between the patients with positive and negative cytology.

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Dysregulation of cell morphology and cell-cell interaction results in cancer cell growth, migration, invasion, and metastasis. Besides, a balance between the extracellular matrix (ECM) and matrix metalloprotease (MMP) is required for cancer cell morphology and angiogenesis. Here, we determined gene signatures associated with the morphology and microenvironment of primary central nervous system lymphoma (PCNSL) to enable prognosis prediction.

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The Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy (cIMPACT-NOW) update 3 recommends that histologic grade II and III IDH-wildtype diffuse astrocytic gliomas that harbor EGFR amplification, the combination of whole chromosome 7 gain and whole chromosome 10 loss (7 + /10 -), or TERT promoter (pTERT) mutations should be considered as glioblastomas (GBM), World Health Organization grade IV. In this retrospective study, we examined the utility of molecular classification based on pTERT status and copy-number alterations (CNAs) in IDH-wildtype lower grade gliomas (LGGs, grade II, and III). The impact on survival was evaluated for the pTERT mutation and CNAs, including EGFR gain/amplification, PTEN loss, CDKN2A homozygous deletion, and PDGFRA gain/amplification.

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Background/aim: High-grade gliomas have a poor prognosis despite standard treatment. The aim of the study was to identify new prognostic factors to select patients who need more intense treatment.

Patients And Methods: Forty-three consecutive patients underwent surgery plus chemoradiotherapy for pathologically diagnosed high-grade gliomas (grade III, IV).

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Machine learning models for automated magnetic resonance image segmentation may be useful in aiding glioma detection. However, the image differences among facilities cause performance degradation and impede detection. This study proposes a method to solve this issue.

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The current research tested the hypothesis that inversion time (TI) shorter than 2,400 ms under 3T for FLAIR can improve the diagnostic accuracy of the T2-FLAIR mismatch sign for identifying mt, non-CODEL astrocytomas. We prepared three different cohorts; 94 MRI from 76 mt, non-CODEL Lower-grade gliomas (LrGGs), 33 MRI from 31 LrGG under the restriction of FLAIR being acquired with TI < 2,400 ms for 3T or 2,016 ms for 1.5T, and 112 MRI from 112 patients from the TCIA/TCGA dataset for LrGG.

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Cluster of differentiation (CD) 166 or activated leukocyte cell adhesion molecule (ALCAM) is a transmembrane molecule known to be an intercellular adhesion factor. The expression and function of ALCAM in medulloblastoma (MB), a pediatric brain tumor with highly advanced molecular genetics, remains unclear. Therefore, this study aimed to clarify the significance and functional role of ALCAM expression in MB.

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TERT promoter mutations are commonly associated with 1p/19q codeletion in IDH-mutated gliomas. However, whether these mutations have an impact on patient survival independent of 1p/19q codeletion is unknown. In this study, we investigated the impact of TERT promoter mutations on survival in IDH-mutated glioma cases.

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Article Synopsis
  • * A questionnaire was sent to numerous departments in Japan, resulting in 132 cases being reported that met the criteria for potential germinoma diagnosis, with tissue samples taken from various lesions.
  • * The findings revealed that most cases confirmed germinoma, but a small percentage had non-germinomatous GCTs, leading to the recommendation that tissue biopsies be performed due to their safety and effectiveness in managing conditions like hydrocephalus.
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Primary central nervous system lymphoma (PCNSL) is a brain malignant non-Hodgkin's B-cell lymphoma. The standard treatments are high-dose methotrexate (MTX)-based chemotherapies and deferred whole brain radiotherapy. However, MTX resistance-dependent global expression and signaling pathway changes and their relationship with prognoses have not yet been elucidated.

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Aging is a known negative prognostic factor in glioblastomas (GBM). Whether particular genetic backgrounds are a factor in poor outcomes of elderly patients with GBM warrants investigation. We aim to elucidate any differences between older and younger adult patients with IDH-wildtype GBM regarding both molecular characteristics and clinical outcomes.

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MicroRNAs (miRNAs) inhibit protein function by silencing the translation of target mRNAs. However, in primary central nervous system lymphoma (PCNSL), the expression and functions of miRNAs are inadequately known. Here, we examined the expression of 847 miRNAs in 40 PCNSL patients with a microarray and investigated for the miRNA predictors associated with cancer immunity-related genes such as T helper cell type 1/2 (Th-1/Th-2) and regulatory T cell (T-reg) status, and stimulatory and inhibitory checkpoint genes, for prognosis prediction in PCNSL.

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Identification of genotypes is crucial for treatment of glioma. Here, we developed a method to predict tumor genotypes using a pretrained convolutional neural network (CNN) from magnetic resonance (MR) images and compared the accuracy to that of a diagnosis based on conventional radiomic features and patient age. Multisite preoperative MR images of 164 patients with grade II/III glioma were grouped by IDH and TERT promoter (pTERT) mutations as follows: (1) IDH wild type, (2) IDH and pTERT co-mutations, (3) IDH mutant and pTERT wild type.

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We attempted to establish a magnetic resonance imaging (MRI)-based radiomic model for stratifying prognostic subgroups of newly diagnosed glioblastoma (GBM) patients and predicting O (6)-methylguanine-DNA methyltransferase promotor methylation (pMGMT-met) status of the tumor. Preoperative MRI scans from 201 newly diagnosed GBM patients were included in this study. A total of 489 texture features including the first-order feature, second-order features from 162 datasets, and location data from 182 datasets were collected.

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