A5040777714- Acute Myeloid Leukemia Research
- Acute Lymphoblastic Leukemia research
- Lymphoma Diagnosis and Treatment
- Chronic Myeloid Leukemia Treatments
- Childhood Cancer Survivors' Quality of Life
- CNS Lymphoma Diagnosis and Treatment
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Protein Degradation and Inhibitors
- Epigenetics and DNA Methylation
- Cancer, Hypoxia, and Metabolism
- Histone Deacetylase Inhibitors Research
- Immune Cell Function and Interaction
- Chronic Lymphocytic Leukemia Research
- HIV Research and Treatment
- Cancer Genomics and Diagnostics
- Retinoids in leukemia and cellular processes
- Cancer-related gene regulation
- Hemoglobinopathies and Related Disorders
- Viral-associated cancers and disorders
- Hematopoietic Stem Cell Transplantation
- RNA modifications and cancer
- Glioma Diagnosis and Treatment
- Multiple Myeloma Research and Treatments
- Sarcoma Diagnosis and Treatment
- HIV/AIDS drug development and treatment
National Institute for Japanese Language and Linguistics
2025
National Center For Child Health and Development
2015-2024
Gunma Children's Medical Center
2013-2023
Palmetto Hematology Oncology
2017
The University of Tokyo
2014
Pediatrics and Genetics
2011
Chiba University
2009
Hokkaido University
1990-1996
Nagoya University
1994
Columbia University
1980
Fusion genes involving ZNF384 have recently been identified in B-cell precursor acute lymphoblastic leukemia, and 7 fusion partners reported. We further characterized this type of gene by whole transcriptome sequencing and/or polymerase chain reaction. In addition to previously reported genes, we BMP2K as a novel partner for ZNF384. Including the EP300-ZNF384 that recently, total frequency ZNF384-related was 4.1% 291 leukemia patients enrolled single clinical trial, TCF3-ZNF384 most...
Fusion genes involving MEF2D have recently been identified in precursor B-cell acute lymphoblastic leukemia, mutually exclusive of the common risk stratifying genetic abnormalities, although their true incidence and associated clinical characteristics remain unknown. We 16 cases leukemia 1 lymphoma harboring fusions, including MEF2D-BCL9 (n=10), MEF2D-HNRNPUL1 (n=6), one novel MEF2D-HNRNPH1 fusion. The fusions overall was 2.4% among consecutive patients enrolled onto a single trial. They...
Key Points Using RNA-seq in pediatric AML patients, 5 gene rearrangements were newly identified, including NPM1 and RUNX1 rearrangements. unmasked the complexity of alterations by identifying disease-causing nearly all patients.
Acute myeloid leukaemia (AML) is a molecularly and clinically heterogeneous disease. Targeted sequencing efforts have identified several mutations with diagnostic prognostic values in KIT, NPM1, CEBPA FLT3 both adult paediatric AML. In addition, massively parallel enabled the discovery of recurrent (i.e. IDH1/2 DNMT3A) this study, whole-exome (WES) 22 AML patients revealed components cohesin complex (RAD21 SMC3), BCORL1 ASXL2 addition to previously known gene mutations. We also intratumoural...
Recent studies revealed that a substantial proportion of patients with high-risk B-cell precursor acute lymphoblastic leukemia (BCP-ALL) harbor fusions involving tyrosine kinase and cytokine receptors, such as ABL1, PDGFRB, JAK2 CRLF2, which are targeted by inhibitors (TKIs). In the present study, transcriptome analysis or multiplex reverse transcriptase-PCR 373 BCP-ALL without recurrent genetic abnormalities identified 29 fusions. Clinically, male predominance (male/female: 22/7), older age...
B-acute lymphoblastic leukemia (B-ALL) comprises a wide variety of subtypes with diverse clinical and biological features outcomes.Risk-stratified targeted therapy according to genetic subtype has improved B-ALL outcomes [1].Next generation sequencing (NGS) identified several novel subtypes, including one ZNF384 rearrangements involving located at position 12p13.31[2][3][4][5][6][7].Interestingly, patients this appear express various leukemic phenotypes, (with or without aberrant expression...
Abstract Pediatric acute megakaryoblastic leukemia in non‐Down syndrome (AMKL) is a unique subtype of myeloid (AML). Novel CBFA2T3‐GLIS2 and NUP98‐KDM5A fusions recurrently found AMKL were recently reported as poor prognostic factors. However, their detailed clinical molecular characteristics patients treated with recent improved therapies remain uncertain. We analyzed features 44 on two Japanese AML protocols, the AML99 AML‐05 trials. identified , RBM15‐MKL1 KMT2A rearrangements 12 (27%), 4...
Abstract Recent genetic studies using high-throughput sequencing have disclosed alterations in B-cell precursor acute lymphoblastic leukemia (B-ALL). However, their effects on clinical outcomes not been fully investigated. To address this, we comprehensively examined and prognostic impact a large series of pediatric B-ALL cases. We performed targeted capture total 1003 patients with from 2 Japanese cohorts. Transcriptome (n = 116) and/or array-based gene expression analysis 120) were also...
Summary Recent reports described the NUP 98‐ NSD 1 fusion as an adverse prognostic marker for acute myeloid leukaemia ( AML ) and PRDM 16 (also known MEL representative overexpressed gene in patients harbouring fusion. expression levels were measured via real‐time polymerase chain reaction 369 paediatric with de novo , of whom 84 (23%) exhibited overexpression / ABL ratio ≥ 0·010). The frequencies high or low differed widely respect to each genetic alteration, follows: t(8;21), 4% vs. 96%, P...
Abstract Translocations of retinoic acid receptor-α (RARA), typically PML–RARA, are a genetic hallmark acute promyelocytic leukemia (APL). However, because small fraction APL lack translocations RARA, we focused here on cases without RARA translocation to elucidate the molecular etiology RARA-negative APL. We performed whole-genome sequencing, PCR, and FISH for five translocations. Four had involving receptor-β (RARB) translocations, TBL1XR1–RARB was identified as an in-frame fusion in three...
Primary central nervous system lymphoma (PCNSL) is an isolated type of the and has a dismal prognosis despite intensive chemotherapy. Recent genomic analyses have identified highly recurrent mutations MYD88 CD79B in immunocompetent PCNSL, whereas LMP1 activation commonly observed Epstein-Barr virus (EBV)-positive PCNSL. However, lack clinically representative preclinical models hampered our understanding pathogenic mechanisms by which genetic aberrations drive PCNSL disease phenotypes. Here,...
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),...
<title>Abstract</title> In vitro models of acute leukemia are crucial for understandingits biology and developing effective treatments. The authors have established characterized a novel cell line, ICH-BCPALL-3, which expresses the <italic>TCF3::HLF</italic>fusion from B-cell precursor lymphoblastic (BCP-ALL). karyotype cultured cells is 46,XY, der(1)(1qter->1q11::1p32->1q11::4q21->4qter), der(4)t(1;4)(q11;p32), add(8)(q24), del(17)(q24). Analysis diagnostic sample revealed...
Abstract Background ZNF384 rearrangements ( ‐r) are associated with distinct subgroups of B‐cell precursor acute lymphoblastic leukemia (BCP‐ALL) and the mixed phenotype leukemia. Types BCP‐ALL ‐r exhibit common immunophenotypic characteristics, whereas their clinical features not uniform TCF3::ZNF384 ‐positive patients show a significantly poorer steroid response higher frequency relapse, while EP300::ZNF384 favorable to conventional chemotherapy. Therefore, we aimed investigate differences...
MYEOV and NEGR1 are novel candidate gene targets in neuroblastoma that were identified by chromosomal gain 11q13 loss 1p31, respectively, through single nucleotide polymorphism array analysis. In the present study, to assess involvement of pathogenesis neuroblastoma, we analyzed their mutation status and/or expression profiles a panel 55 samples, including 25 cell lines, followed additional functional studies. No tumor-specific mutations or our case series. Expression was upregulated 11...
Mutations in the ATP6V1B1 and ATP6V0A4 genes cause primary autosomal-recessive distal renal tubular acidosis (dRTA). Large deletions of either gene patients with dRTA have not been described. The were directly sequenced 11 Japanese from nine unrelated kindreds. heterozygous analyzed by quantitative real-time polymerase chain reaction (PCR). clinical features also investigated. Novel mutations identified two kindreds, including frameshift, in-frame insertion nonsense mutations. Exon 15 was...
Abstract High PRDM16 (also known as MEL1 ) expression is a representative marker of acute myeloid leukemia (AML) with NUP98‐NSD1 and significant predictive for poor prognosis in pediatric AML. However, the clinical features adult AML remain unclear. highly homologous to MDS1/EVI1 , which an alternatively spliced transcript MECOM EVI1 ). We investigated 151 patients, 47 (31%) exhibiting high ( PRDM16/ABL1 ratio ≥ 0.010). significantly correlated DNMT3A (43% vs. 15%, P < 0.001) NPM1 21%, =...
Intragenic PAX5 amplification defines a novel, relapse-prone subtype of B-cell precursor acute lymphoblastic leukemia with poor outcome.