Yoshiko Nakano
- Glioma Diagnosis and Treatment
- Neuroblastoma Research and Treatments
- Japanese History and Culture
- Cancer, Hypoxia, and Metabolism
- Congenital Diaphragmatic Hernia Studies
- Sarcoma Diagnosis and Treatment
- Culinary Culture and Tourism
- Chromatin Remodeling and Cancer
- Neurofibromatosis and Schwannoma Cases
- Meningioma and schwannoma management
- Childhood Cancer Survivors' Quality of Life
- Cancer Genomics and Diagnostics
- Migration, Ethnicity, and Economy
- Radiopharmaceutical Chemistry and Applications
- Hedgehog Signaling Pathway Studies
- Cancer Mechanisms and Therapy
- Asian Culture and Media Studies
- Electron and X-Ray Spectroscopy Techniques
- Cancer-related Molecular Pathways
- Radiomics and Machine Learning in Medical Imaging
- Acute Lymphoblastic Leukemia research
- Lymphoma Diagnosis and Treatment
- Hematopoietic Stem Cell Transplantation
- Adrenal and Paraganglionic Tumors
- Fetal and Pediatric Neurological Disorders
Hospital for Sick Children
2022-2025
Baylor College of Medicine
2024
Kyushu Hospital
2024
The University of Tokyo
2021-2024
Osaka City General Hospital
2015-2024
University of Tokyo Hospital
2021-2024
University College London
2024
SickKids Foundation
2024
Great Ormond Street Hospital
2024
University of Toronto
2022-2024
Infant gliomas have paradoxical clinical behavior compared to those in children and adults: low-grade tumors a higher mortality rate, while high-grade better outcome. However, we little understanding of their biology therefore cannot explain this nor what constitutes optimal management. Here report comprehensive genetic analysis an international cohort clinically annotated infant gliomas, revealing 3 subgroups. Group 1 arise the cerebral hemispheres harbor alterations receptor tyrosine...
Extensive molecular analyses of ependymal tumors have revealed that supratentorial and posterior fossa ependymomas distinct profiles are likely to be different diseases. The presence C11orf95-RELA fusion genes in a subset (ST-EPN) indicated the existence subgroups. However, pathogenesis RELA fusion-negative remains elusive. To investigate these validate classification tumors, we conducted thorough 113 locally diagnosed from 107 patients Japan Pediatric Molecular Neuro-Oncology Group. All...
Background: Clinical trials of anti-Aβ monoclonal antibodies in Alzheimer disease (AD) infer target engagement from Aβ positron emission tomography (PET) and/or fluid biomarkers such as cerebrospinal (CSF) Aβ42/40.However, these measure deposits indirectly incompletely.In contrast, postmortem neuropathologic assessments allow direct investigation treatment effects on brain and many other pathologic features.Methods: From a clinical trial dominantly inherited AD, we measured...
Li-Fraumeni syndrome (LFS) is a hereditary tumor that exhibits autosomal dominant inheritance. LFS develops in individuals with pathogenic germline variant of the cancer-suppressor gene, TP53 (individuals variant). The number among general population said to be 1 500 20,000. Meanwhile, it found 1.6% (median value, range 0-6.7%) patients pediatric cancer and 0.2% adult cancer. diagnosed by presence variants. However, can still even absence if familial history cancers fit classic diagnostic...
Abstract Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer predisposition condition characterized by a high lifetime risk for wide spectrum of malignancies associated with germline pathogenic/likely pathogenic (P/LP) variants in the TP53 tumor suppressor gene. Secondary malignant neoplasms are particularly common. Early detection through surveillance enables early intervention and leads to improved clinical outcomes reduced tumor-related mortality treatment-related morbidity. Since...
Giant cell tumor of bone typically involves the epiphysis long bones skeletally mature patients. It is genetically characterized by highly recurrent and specific mutations H3F3A gene, which encodes histone H3.3. The most common mutation G34W can readily be detected a recently developed mutation-specific antibody. rarely transforms to sarcoma (malignant giant bone), has not been in detail. We studied seven clinicopathologically defined malignant tumors, as well two H3F3A-mutant sarcomas...
Abstract The current standard of diagnosing central nervous system (CNS) lymphoma is stereotactic biopsy, however the procedure has a risk surgical complication. Liquid biopsy CSF less invasive, non‐surgical method that can be used for CNS lymphoma. In this study, we established clinically applicable protocol determining mutations in MYD88 patients with was collected prior to start chemotherapy from 42 and matched tumor specimens. Mutations 33 samples were identified using pyrosequencing....
Recurrent fusion genes involving C11orf95, C11orf95-RELA, have been identified only in supratentorial ependymomas among primary CNS tumors. Here, we report hitherto histopathologically unclassifiable high-grade tumors, under the tentative label of "ependymoma-like tumors with mesenchymal differentiation (ELTMDs)," harboring C11orf95-NCOA1/2 or -RELA fusion. We examined clinicopathological and molecular features five cases ELTMDs. Except for one adult case (50 years old), all were children...
In this report, the authors present first case of adult brainstem pilocytic astrocytoma (PA) with H3 K27M mutation. A 53-year-old man was incidentally found to have a 2.5-cm partially enhanced tumor in tectum on MRI. The enhancement lesion increased over 3 years, and gross-total removal performed via occipital transtentorial approach. resected tissue indicated PA, WHO Grade I, genetic analysis revealed However, although radiological, surgical, pathological findings all corresponded entity...
Intracranial germ cell tumors (IGCTs) are rare brain neoplasms that mainly occur in children and adolescents with a particularly high incidence East Asian populations. Here, we conduct genome-wide association study (GWAS) of 133 patients IGCTs 762 controls Japanese ancestry. A common 4-bp deletion polymorphism an enhancer adjacent to BAK1 is significantly associated the disease risk (rs3831846; P = 2.4 × 10-9, odds ratio 2.46 [95% CI: 1.83-3.31], minor allele frequency 0.43). Rs3831846...
Metastatic neuroblastoma is an aggressive malignancy with a poor prognosis. Recent findings have shown that sorafenib decreases cell viability and increases apoptosis in human lines. We report experience of compassionate use children treatment-refractory neuroblastoma. Sorafenib showed transient anti-tumor activity all four patients without adverse effects. However, progression was observed after short stabilization phase. While minimal our patients, it might still be effective earlier stage.