Hidetaka Niizuma
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View article: Clinical Utility of Comprehensive Genomic Profiling Tests Using MTB Management System at a Single Center in Japan
Clinical Utility of Comprehensive Genomic Profiling Tests Using MTB Management System at a Single Center in Japan Open
Cancer genomic medicine interprets genetic information for diagnosis and treatment. It requires an organized team of experts from various fields to discuss treatment recommendations at a molecular tumor board (MTB). It is also important to…
View article: Regional Differences in the Frequency of <scp><i>BRCA1</i></scp> and <scp><i>BRCA2</i></scp> Variants in Northeastern Japan: A Cohort Study
Regional Differences in the Frequency of <span><i>BRCA1</i></span> and <span><i>BRCA2</i></span> Variants in Northeastern Japan: A Cohort Study Open
Background Germline mutations in BRCA1 / 2 are known to cause hereditary tumors in the breast, ovary, and other organs. With the widespread adoption of comprehensive diagnostics, including comprehensive genomic profiling (CGP) tests for so…
View article: Clinical characteristics and management of plexiform neurofibromas in children with neurofibromatosis 1: A Japanese nationwide survey
Clinical characteristics and management of plexiform neurofibromas in children with neurofibromatosis 1: A Japanese nationwide survey Open
This retrospective nationwide study revealed early onset, diverse tumor locations, and varying morbidities in children with NF1-PN, underscoring the need for early evaluation and optimal treatment. A prospective multicenter registry system…
View article: Efficacy of rituximab for the treatment and prevention of autoimmunity in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia
Efficacy of rituximab for the treatment and prevention of autoimmunity in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia Open
Immunological dysfunction in multiple lineages of hematopoietic cells and mixed chimerism after allogeneic hematopoietic stem cell transplantation (HSCT) are associated with an increased risk of autoimmunity in patients with Wiskott-Aldric…
View article: Clofarabine monotherapy in two patients with refractory Langerhans cell histiocytosis
Clofarabine monotherapy in two patients with refractory Langerhans cell histiocytosis Open
Clofarabine (CLO) monotherapy reportedly induces a better clinical response in some patients with refractory Langerhans cell histiocytosis (LCH). We successfully treated two patients with refractory multisystem LCH with CLO monotherapy aft…
View article: Detection of Novel Tyrosine Kinase Fusion Genes as Potential Therapeutic Targets in Bone and Soft Tissue Sarcomas Using DNA/RNA-based Clinical Sequencing
Detection of Novel Tyrosine Kinase Fusion Genes as Potential Therapeutic Targets in Bone and Soft Tissue Sarcomas Using DNA/RNA-based Clinical Sequencing Open
Background Approximately 1% of clinically treatable tyrosine kinase fusions, including anaplastic lymphoma kinase, neurotrophic tyrosine receptor kinase, RET proto-oncogene, and ROS proto-oncogene 1, have been identified in soft tissue sar…
View article: Reduced-intensity conditioning is effective for allogeneic hematopoietic stem cell transplantation in infants with MECOM-associated syndrome
Reduced-intensity conditioning is effective for allogeneic hematopoietic stem cell transplantation in infants with MECOM-associated syndrome Open
View article: Living Donor Lobar Lung Transplant for a Patient With Lung Disease Caused by ABCA3 Gene Mutations: A Case Report
Living Donor Lobar Lung Transplant for a Patient With Lung Disease Caused by ABCA3 Gene Mutations: A Case Report Open
Recessive gene mutations in ABCA3 cause lethal neonatal respiratory distress, and pediatric and adult interstitial lung disease. The effectiveness of medical treatments is limited and a subset of such patients will eventually require lung …
View article: Clinical decisions by the molecular tumor board on comprehensive genomic profiling tests in Japan: A retrospective observational study
Clinical decisions by the molecular tumor board on comprehensive genomic profiling tests in Japan: A retrospective observational study Open
Background A paradigm shift has occurred in cancer chemotherapy from tumor‐specific treatment with cytotoxic agents to personalized medicine with molecular‐targeted drugs. Thus, it is essential to identify genomic alterations and molecular…
View article: Novel<i>POLE</i>mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus
Novel<i>POLE</i>mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus Open
Background DNA replisome is a molecular complex that plays indispensable roles in normal DNA replication. IMAGE-I syndrome is a DNA replisome-associated genetic disease caused by biallelic mutations in the gene encoding DNA polymerase epsi…
View article: Identification of clinical factors related to antibody‐mediated immune response to the subfornical organ
Identification of clinical factors related to antibody‐mediated immune response to the subfornical organ Open
Objective We recently reported cases of adipsic hypernatremia caused by autoantibodies against the subfornical organ in patients with hypothalamic‐pituitary lesions. This study aimed to clarify the clinical features of newly identified pat…
View article: A pediatric case of osteosarcoma and tuberous sclerosis complex with a novel germline mutation in the TSC2 gene and a somatic mutation in the TP53 gene
A pediatric case of osteosarcoma and tuberous sclerosis complex with a novel germline mutation in the TSC2 gene and a somatic mutation in the TP53 gene Open
We report on a 12-year-old female who developed osteosarcoma with tuberous sclerosis. Clinical sequencing of osteosarcoma tissues identified a somatic mutation in the TP53 gene and a novel germline mutation in the TSC2 gene. Pathological a…
View article: Clofarabine monotherapy in two patients with refractory Langerhans cell histiocytosis
Clofarabine monotherapy in two patients with refractory Langerhans cell histiocytosis Open
Background Better therapeutic options other than conventional chemotherapy for pediatric patients with refractory Langerhans cell histiocytosis (LCH) remain undetermined. Case We successfully treated two patients with refractory and risk o…
View article: Taspase1 orchestrates fetal liver hematopoietic stem cell and vertebrae fates through cleaving TFIIA
Taspase1 orchestrates fetal liver hematopoietic stem cell and vertebrae fates through cleaving TFIIA Open
Taspase1, a highly conserved threonine protease encoded by TASP1, cleaves nuclear histone-modifying factors and basal transcription regulators to orchestrate diverse transcription programs. Hereditary loss-of-function mutation of TASP1 has…
View article: Case Report: Infantile-Onset Fulminant Type 1 Diabetes Mellitus Caused by Novel Compound Heterozygous LRBA Variants
Case Report: Infantile-Onset Fulminant Type 1 Diabetes Mellitus Caused by Novel Compound Heterozygous LRBA Variants Open
Lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency is a subtype of common variable immune deficiency (CVID). Numerous case reports and cohort studies have described a broad spectrum of clinical manifestations and variable di…
View article: Gingival Pigmentation in a Boy
Gingival Pigmentation in a Boy Open
View article: MBCL-48. OUTCOMES OF TREATMENT BASED ON THE ST. JUDE MEDULLOBLASTOMA-96 REGIMEN FOR JAPANESE CHILDREN WITH MEDULLOBLASTOMA
MBCL-48. OUTCOMES OF TREATMENT BASED ON THE ST. JUDE MEDULLOBLASTOMA-96 REGIMEN FOR JAPANESE CHILDREN WITH MEDULLOBLASTOMA Open
Medulloblastoma is a type of malignant embryonal tumor in childhood that is considered to require multiagent chemotherapy followed by radical resection and craniospinal irradiation (CSI). However, the outcomes of chemotherapy for this tumo…
View article: Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan
Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan Open
View article: HG-01A NOVEL GENODERMATOSIS SYNDROME INDUCED BY SOMATIC BRAF V600E MOSAICISM, COMPRISING CONGENITAL ANAPLASTIC ASTROCYTOMA AND LINEAR SYRINGOCYSTADENOMA PAPILLIFERUM
HG-01A NOVEL GENODERMATOSIS SYNDROME INDUCED BY SOMATIC BRAF V600E MOSAICISM, COMPRISING CONGENITAL ANAPLASTIC ASTROCYTOMA AND LINEAR SYRINGOCYSTADENOMA PAPILLIFERUM Open
View article: Taspase 1: A protease with many biological surprises
Taspase 1: A protease with many biological surprises Open
Taspase 1 (TASP1) cleaves the mixed-lineage leukemia (MLL) and transcription factor (TF) IIA families of nuclear proteins to orchestrate various biological processes. TASP1 is not a classical oncogene, but assists in cell proliferation and…