A5020929077- Acute Lymphoblastic Leukemia research
- Immunodeficiency and Autoimmune Disorders
- Childhood Cancer Survivors' Quality of Life
- Hematopoietic Stem Cell Transplantation
- Lymphoma Diagnosis and Treatment
- Immune Cell Function and Interaction
- Acute Myeloid Leukemia Research
- Cytomegalovirus and herpesvirus research
- Neurogenetic and Muscular Disorders Research
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Neutropenia and Cancer Infections
- Neonatal Respiratory Health Research
- Ferroptosis and cancer prognosis
- Inflammatory Bowel Disease
- Blood disorders and treatments
- Chronic Lymphocytic Leukemia Research
- Cancer Genomics and Diagnostics
- Renal Transplantation Outcomes and Treatments
- Pancreatic and Hepatic Oncology Research
- Lung Cancer Research Studies
- RNA regulation and disease
- Gut microbiota and health
- Chronic Myeloid Leukemia Treatments
- Parvovirus B19 Infection Studies
- Oral health in cancer treatment
Children's Hospital of Fudan University
2015-2024
Beijing Jiaotong University
2022
Children's Hospital
2021
Fudan University
2021
Zhejiang University of Science and Technology
2021
Interferon regulatory factor 4 (IRF4) is a transcription (TF) and key regulator of immune cell development function. We report recurrent heterozygous mutation in IRF4, p.T95R, causing an autosomal dominant combined immunodeficiency (CID) seven patients from six unrelated families. The exhibited profound susceptibility to opportunistic infections, notably Pneumocystis jirovecii , presented with agammaglobulinemia. Patients’ B cells showed impaired maturation, decreased immunoglobulin isotype...
Interleukin-10 (IL10)/interleukin-10 receptor (IL10R) deficiency is a rare disease with life-threatening infantile-onset colitis. We sought to accurately phenotype this disorder based on large cohort of patients proven defect IL10 signaling and clarify the effects allogeneic hematopoietic stem cell transplantation (HSCT).We analyzed phenotypes our 61 reviewed 78 other previously reported cases identified mutations in genes encoding or IL10R. also compared clinical features interleukin-10 B...
Genetic variability affects clinical outcome in pediatric acute lymphocytic leukemia (ALL) patients. Evaluating gene polymorphisms ABC transporters could help identify relapse risk and predict outcome.The SNaPshot SNP technique was used to analyze single-nucleotide (SNPs) the multidrug transporter 1 (MDR1), resistance associated proteins (MRP1, MRP2) breast cancer protein (BCRP) genes of 82 ALL The association between SNPs with all events death as well survival evaluated by univariate Cox...
Acute lymphoblastic leukemia (ALL), the most common childhood malignancy, is characterized by recurring structural chromosomal alterations and genetic alterations, whose detection critical in diagnosis, risk stratification prognostication. However, mechanisms that give rise to ALL remain poorly understood.Using next-generation sequencing (NGS) matched germline tumor samples from 140 pediatric Chinese patients with ALL, we landscaped gene mutations estimated mutation frequencies this...
Infantile-onset inflammatory bowel disease can be caused by defects in interleukin-10 signalling. The natural history and clinical outcomes of allogeneic haematopoietic stem cell transplantation, medical treatment surgery have not been thoroughly described.This study evaluates progression outcome patients with signalling deficiency.One hundred nine deficiency were retrospectively reviewed from a single tertiary centre. Kaplan-Meier method was applied to calculate probabilities survival...
Hematopoietic stem cell transplantation is considered the only curative therapy for very early-onset inflammatory bowel disease with specific immune defects, such as interleukin-10 receptor deficiency. We performed reduced-intensity conditioning before umbilical cord blood in patients receptor-A enrolled 9 typical manifestations. diagnosed deficiency by whole-exome sequencing. Umbilical was all patients. Eight received regimen, and 1 patient myeloablative regimen. All between ages of 6...
Abstract Purpose Pediatric patients with inborn errors of immunity (IEI) undergoing umbilical cord blood transplantation (UCBT) are at risk early mortality. Our aim was to develop and validate a prediction model for mortality after UCBT in pediatric IEI based on pretransplant factors. Methods Data from 230 who received their first between 2014 2021 single center were analyzed retrospectively. 2014–2019 2020–2021 used as training validation sets, respectively. The primary outcome interest...
Acute lymphoblastic leukemia (ALL), the most common childhood malignancy, is characterized by molecular aberrations. Recently, genetic profiling has been fully investigated on ALL; however, interaction between its alterations and clinical features still unclear. Therefore, we effects of variants ALL phenotypes outcomes.Targeted exome sequencing technology was used to detect 140 Chinese pediatric patients with ALL. Correlation outcomes analyzed.T-cell (T-ALL) had higher initial white blood...
High-dose methotrexate (HD-MTX) is widely used in pediatric acute lymphoblastic leukemia (ALL) treatment regimens. In this study, we aimed to develop a population pharmacokinetic (PK) model of HD-MTX Chinese patients with ALL for designing personalized dosage total, 4,517 MTX serum concentration data 311 ALL, aged 0.75–15.2 years and under treatment, were retrospectively collected at tertiary Children’s Hospital China. The non-linear mixed-effect was establish the PK model, using NONMEM...
This retrospective cohort study analysed the clinical characteristics and outcomes of patients with childhood lymphoblastic lymphoma (LBL) treated in Shanghai, China.From 2001 to 2010, 108 evaluable ≤16 years age who were newly diagnosed biopsy-proven LBL one three treatment protocols: CCCG-99, SCMC-T-NHL-2002, or LBL-CHOF-2006.Two had Stage I disease, 5 II, 55 III, 46 IV. The immunophenotype was T-cell 92 (85.2%) precursor B-cell 16 (14.8%). abandonment rate 11.5%. Twenty-five (23.2%)...
Abstract Background Contemporary risk‐directed treatment has improved the outcome of patients with acute lymphoblastic leukemia (ALL) and TCF3::PBX1 fusion. In this study, authors seek to identify prognostic factors that can be used further improve outcome. Methods The studied 384 genotype treated on Chinese Children's Cancer Group ALL‐2015 protocol between January 1, 2015 December 31, 2019. All provisionally received intensified chemotherapy in intermediate‐risk arm without prophylactic...
ObjectivesTo explore the underlying molecular mechanisms of childhood B-precursor acute lymphoblastic leukemia (ALL) by bioinformatics analysis and find potential targets for ALL diagnosis treatment.MethodsGene expression profile GSE28460 was downloaded from Gene Expression Omnibus, including 49 diagnostic relapse bone marrow samples with ALL. The differentially expressed genes (DEGs) were identified paired t-test. Pathway enrichment DEGs transcription factors (TFs) performed, followed...
BACKGROUND The aim of this study was to investigate the diagnostic and prognostic value microRNA (miRNA)-21, miRNA-23a, miRNA-125b in Burkitt lymphoma (BL) children. MATERIAL AND METHODS We recruited 41 children with BL for case group, 56 lymph node inflammation positive control 60 healthy negative group. Real-time fluorescent quantitative polymerase chain reaction (RT-qPCR) conducted detection circulating miRNA-21, miRNA-125b. A receiver operating characteristic (ROC) curve drawn compare...
Background: Disseminated Bacillus Calmette-Guérin disease (D-BCG) in children with chronic granulomatous (CGD) can be fatal, while its clinical characteristics remain unclear because both diseases are extremely rare. The patients CGD receive BCG vaccination, vaccination is usually performed within 24 hours after delivery China. Methods: We prospectively followed-up Chinese who developed D-BCG to characterize their and genetic characteristics. diagnoses were based on the patients' clinical,...
Summary We report the outcome of 92 non‐high risk children with acute lymphoblastic leukaemia ( ALL ) following a Berlin‐Frankfürt‐Münster BFM Intercontinental ‐based protocol. Compared matched historical control group, we found lower incidence treatment‐related early death (1·2% vs. 10·9%, P = 0·015), higher 6‐year event‐free survival (75·4 ± 4·9% 58·2 6·7%, 0·02), reduced total in‐hospital costs per person US $) (10267·0 18331·0, < 0·001) and fewer days (164 296, 0·001). This ‐ based...
Pancreatic cancer is a highly malignant and metastatic tumor of the digestive system. Even after surgical removal tumor, most patients are still at risk metastasis. Therefore, screening for biomarkers can identify precise therapeutic intervention targets. In this study, we analyzed 96 pancreatic samples from The Cancer Genome Atlas (TCGA) without metastasis or with R0 resection. We also retrieved data cell lines Gene Expression Omnibus (GEO), as well collected sequencing our own lines,...
Background: Acute lymphoblastic leukemia (ALL) is the most common malignancy in children, while relapse and refractory ALL remains a leading cause of death children. However, paired samples initial diagnosis subjected to next-generation sequencing (NGS) could construct clonal lineage changes, help explore key issues evolutionary process tumor clones. Therefore, we aim analyze gene alterations during patients underlying mechanism. Methods: Targeted exome technology was used detect molecular...
Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a malignant primary that challenging to distinguish from autoimmune disorders and reactive panniculitides. Delay in diagnosis high misdiagnosis rate affect the prognosis survival of patients. The difficulty mainly due an incomplete understanding disease pathogenesis. We performed single-cell RNA sequencing matched subcutaneous lesion tissue, peripheral blood, bone marrow patient with SPTCL, as well marrow, lymph node, lung tissue...
Cyclosporine (CsA) is a component of the first-line treatment for acquired aplastic anemia (acquired AA) in pediatric patients. This study aimed to develop population pharmacokinetic (PK) model CsA Chinese patients with AA inform individual dosage regimens. A total 681 whole blood concentrations and laboratory data 157 were retrospectively collected from two hospitals Shanghai. nonlinear mixed-effect approach was used build PK model. Potential covariate effects age, body weight, biochemical...
Pediatric acute megakaryoblastic leukemia (AMKL) is a subtype of myeloid (AML) characterized by abnormal megakaryoblasts, and it divided into the AMKL patients with Down syndrome (DS-AMKL) without DS (non-DS-AMKL). non-DS-AMKL heterogeneous disease extremely poor outcome. We performed single-cell RNA sequencing (scRNA-seq) bone marrow from two CBFA2T3-GLIS2 fusion-positive one RBM15-MKL1 children. Meanwhile, we downloaded scRNA-seq data normal megakaryocyte (MK) cells fetal liver healthy...