A5103061789- Acute Myeloid Leukemia Research
- Glioma Diagnosis and Treatment
- Polyomavirus and related diseases
- Epigenetics and DNA Methylation
- Acute Lymphoblastic Leukemia research
- Histone Deacetylase Inhibitors Research
- Lymphoma Diagnosis and Treatment
- Protein Degradation and Inhibitors
- Cancer Genomics and Diagnostics
- Medical Imaging and Pathology Studies
- CNS Lymphoma Diagnosis and Treatment
- Autoimmune Neurological Disorders and Treatments
- IgG4-Related and Inflammatory Diseases
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Full-Duplex Wireless Communications
- Vasculitis and related conditions
- Peripheral Neuropathies and Disorders
- ATP Synthase and ATPases Research
- Immune cells in cancer
- Bacteriophages and microbial interactions
- RNA regulation and disease
- Systemic Lupus Erythematosus Research
- Chronic Lymphocytic Leukemia Research
- Glycogen Storage Diseases and Myoclonus
- Boron Compounds in Chemistry
Yokohama City University
2016-2025
Shinshu University
2015-2023
Pediatrics and Genetics
2018
Shinshu University Hospital
2017
Hokkaido University
2004
<title>Abstract</title> The RNA-sequencing data from the Japanese Children’s Cancer Group (JCCG)’s AML-05 study was re-analyzed to clarify mechanisms related high <italic>PRDM16</italic> expressions, which is independently associated with adverse outcomes. Results showed that 19 of 139 patients presented out-of-frame <italic>PRDM16::SKI</italic> fusions. Thus, gene expression levels in 369 and 329 AML-12 studies, respectively, were measured. In total, 119 (32%) 58 (18%) an aberrant...
Abstract We investigated genome-wide DNA methylation patterns in 64 pediatric patients with acute myeloid leukemia (AML). Based on unsupervised clustering the 567 most variably methylated cytosine guanine dinucleotide (CpG) sites, were categorized into 4 clusters associated genetic alterations. Clusters 1 and 3 characterized by presence of known favorable prognostic factors, such as RUNX1-RUNX1T1 fusion KMT2A rearrangement low MECOM expression, biallelic CEBPA mutations (all 8 patients),...
The current standard diagnostic approach for progressive multifocal leukoencephalopathy (PML) is to perform a DNA test identify the presence of JC virus in cerebrospinal fluid (CSF). A 32-year-old woman with 5-year history systemic lupus erythematosus developed right hemiplegia and motor aphasia. MRI revealed large white matter lesion left frontal lobe. was undetectable CSF, but brain biopsy showed typical histopathology high load virus. patient treated mefloquine mirtazapine, currently...
Crizotinib treatment for refractory pediatric acute myeloid leukemia with RAN-binding protein 2-anaplastic lymphoma kinase fusion gene
Mutations in the MECOM encoding EVI1 are observed infants who have radioulnar synostosis with amegakaryocytic thrombocytopenia. MECOM-associated syndrome was proposed based on clinical heterogeneity. Allogeneic hematopoietic stem cell transplantation (HSCT) is a curative treatment for progressive bone marrow failure. However, data regarding allogeneic HSCT this rare disease limited. We retrospectively assessed overall survival, conditioning regimen, regimen-related toxicities and long-term...
Transient myoclonic involuntary movements, typically referred to as spinal myoclonus (SM), rarely develop in the extremities following neuraxial anesthesia (NA). NA indications patients with history of SM (SM-NA) are unknown. A 33-year-old woman developed SM-NA after elective cesarean section (CS). Approximately 130 min induction, she began exhibiting which became most severe approximately 3 h. The movements gradually decreased without treatments and disappeared 5 patient underwent CS on...
Abstract Infant acute lymphoblastic leukemia with lysine (K)‐specific methyltransferase 2A ( KMT2A ) rearrangements usually has a poor prognosis regardless of the fusion partners . However, pediatric myeloid (AML) depends on its translocation partners. We herein report case 9‐month‐old boy KMT2A‐USP2 fusion, which required diagnosis by whole transcriptome sequencing after failure detection known conventional screening approaches. As this first patient AML illustrates, identification in all...
In the revised World Health Organization classification 2016, anaplastic pleomorphic xanthoastrocytoma ( PXA ) has been newly defined as a variant of entity. Furthermore, some were reported to have extremely poor prognosis which showed type pediatric glioblastoma GBM molecular profile. Recent integrated for primary central nervous system tumors proposed differences between histological and features. Herein, in genome‐wide analysis, we show an extreme aggressive that resulted A full...
症例1は59歳女性.特発性好酸球増多症に対しプレドニゾロンを内服中.脳MRI病変に軽度の造影効果が認められ,炎症の存在が示唆された.症例2は30歳女性.全身性エリテマトーデスに対し免疫治療中.脳生検が実施され,CD4およびCD8陽性細胞の均衡がとれたリンパ球浸潤を認めた.両症例とも神経症状発症早期に進行性多巣性白質脳症(progressive multifocal leukoencephalopathy; PML)と診断し,メフロキン,ミルタザピン,リスペリドンによる治療を行った.症例1は発症から24ヶ月,症例2は45ヶ月経過しているが,症状改善し生存している.PMLの予後は不良とされているが,JCウイルスに対する制御された免疫応答を有する症例では薬物治療が有効である可能性がある.
KIT D816V mutation within exon 17 has been particularly reported as one of the poor prognostic factors in pediatric acute myeloid leukemia (AML) with RUNX1-RUNX1T1. The exact frequency and impact minor clones at diagnosis were not examined. In this study, examined significance patients was investigated. Consequently, 24 mutations (7.2%) 335 identified, 12 only detected via digital droplet polymerase chain reaction method. All confined core binding factor (CBF)-AML patients. 5 year event-free...
Abstract Background The molecular pathogenesis of acute myeloid leukemia (AML) was dramatically clarified over the latest two decades. Several important markers were discovered in patients with AML that have helped to improve risk stratification. However, developing new treatment strategies for relapsed/refractory is crucial due its poor prognosis. Procedure To overcome this difficulty, we performed an assay transposase‐accessible chromatin sequencing (ATAC‐seq) 10 various gene alterations....
Primary central nervous system lymphoma (PCNSL) is a rare and aggressive type of extranodal non-Hodgkin that carries an unsatisfactory prognosis. Treating refractory PCNSL challenging because resistance to conventional cytotoxic intrathecal chemotherapies. Therefore, novel therapeutic approaches are needed. Here, we report 12-year-old boy with CD20-positive PCNSL, which was combination chemotherapy intravenous rituximab. However, the patient achieved complete remission after repeated...
Acute myeloid leukemia (AML) or myelodysplastic syndromes (MDS) with both inv(3)(q21q26.2)/t(3;3)(q21;q26.2) and monosomy 7 defines an extremely aggressive cancer whose molecular pathogenesis optimal therapeutic strategy still remain unclear. We established a new MDS/AML cell line, YCU-AML1, its patient-derived xenograft (PDX) model from high-risk MDS patient who later transformed into AML harboring t(3;3)(q21;q26.2) 7. YCU-AML1 cells propagated in co-culture system stromal granulocyte...
Sakaguchi, Noriko MD; Shimojima, Yasuhiro MD, PhD; Ushiyama, Satoru Ichikawa, Takanori Ikeda, Junji Ueno, Ken-ichi Kishida, Dai Sekijima, Yoshiki PhD Author Information
1572 Background: Alterations of DNA repair protein have been associated with sensitivity to anticancer drugs, and transcriptional repression by promoter hypermethylation is an essential role in the inactivation. Recently methylation O6-methylguanine-DNA methyltransferase (MGMT) expected predictor not only responsiveness chemotherapy but also prognosis patient glioma. The aim this study was investigate profile genes, MGMT, FANCF hMLH1, glioblastoma multiforme correlation between status...