BRAF-V600E mutations in plasma and peripheral blood mononuclear cells correlate with prognosis of pediatric Langerhans cell histiocytosis treated with first-line therapy.

Background: The clinical relevance of BRAF-V600E alleles in peripheral blood mononuclear cells (PBMCs) and the prognostic impact of the mutants in cell-free (cf) and PBMC DNAs of Langerhans cell histiocytosis (LCH) have not been fully clarified in pediatric LCH.

Methods: We retrospectively determined the levels of BRAF-V600E mutation in paired plasma and PBMC samples at the time of diagnosis of LCH. Subsequently, we performed a separate or combined analysis of the clinical and prognostic impact of the mutants.

Relationship between subtype-specific minimal residual disease level and long-term prognosis in children with acute lymphoblastic leukemia.

Minimal residual disease (MRD) based risk stratification criteria for specific genetic subtypes remained unclear in childhood acute lymphoblastic leukemia (ALL). Among 723 children with newly diagnosed ALL treated with the Chinese Children Leukemia Group CCLG-2008 protocol, MRD was assessed at time point 1 (TP1, at the end of induction) and TP2 (before consolidation treatment) and the MRD levels significantly differed in patients with different fusion genes or immunophenotypes (P all < 0.001).

Tracing back of relapse clones by Ig/TCR gene rearrangements reveals complex patterns of recurrence in pediatric acute lymphoblastic leukemia.

Introduction: Relapse remained the major obstacle to improving the prognosis of children with acute lymphoblastic leukemia (ALL). This study aimed to investigate the changing patterns of Ig/TCR gene rearrangements between diagnosis and relapse and the clinical relevance and to explore the mechanism of leukemic relapse.

Methods: Clonal Ig/TCR gene rearrangements were screened by multiplex PCR amplification in 85 paired diagnostic and relapse bone marrow (BM) samples from children with ALL.

Clinical outcomes and prognostic risk factors of Langerhans cell histiocytosis in children: Results from the BCH-LCH 2014 protocol study.

Langerhans cell histiocytosis (LCH) is a rare myeloid neoplasm mainly affecting young children. This study aimed to evaluate the outcomes of 449 pediatric patients enrolled in the BCH-LCH 2014 study. 52.

Interaction of E2F3a and CASP8AP2 Regulates Histone Expression and Chemosensitivity of Leukemic Cells.

Low expression levels of E2F3a and caspase 8-associated protein 2 (CASP8AP2) are associated with poor outcomes in children with acute lymphoblastic leukemia. Our previous study showed that a combined assessment of E2F3a and CASP8AP2 expression was more accurate in predicting relapse in children with acute lymphoblastic leukemia. However, the underlying mechanism remains unclear.

Clinical features and treatment outcomes of pediatric Langerhans cell histiocytosis with macrophage activation syndrome-hemophagocytic lymphohistiocytosis.

Background: Langerhans cell histiocytosis (LCH) is a rare myeloid neoplasm. A few LCH patients had Macrophage activation syndrome-hemophagocytic lymphohistiocytosis (MAS-HLH), a life-threatening, hyper-inflammatory syndrome. We retrospectively described the clinical-biological characteristics of a series of 28 pediatric LCH patients with MAS-HLH in a single center.

A study of ruxolitinib response-based stratified treatment for pediatric hemophagocytic lymphohistiocytosis.

Hemophagocytic lymphohistiocytosis (HLH) is a lethal disorder characterized by hyperinflammation. Recently, ruxolitinib (RUX), targeting key cytokines in HLH, has shown promise for HLH treatment. However, there is a lack of robust clinical trials evaluating its efficacy, especially its utility as a frontline therapy.

Interaction between CASP8AP2 and ZEB2-CtBP2 Regulates the Expression of .

Low expression of and correlated with poor outcome and predicted risk of relapse in pediatric B-cell acute lymphoblastic leukemia (B-ALL). This study aimed to investigate the molecular mechanism by which CASP8AP2 regulates LEF1 expression by interacting with CtBP2 and ZEB2 in Acute lymphoblastic lymphoma (ALL). There was an interaction between CASP8AP2, ZEB2, and CtBP2, and then the interaction between CtBP2 and ZEB2 was observed after downregulating the expression of CASP8AP2.

Mutation in Cell-Free DNA, Rather than in Lesion Tissues, at Diagnosis Is An Independent Prognostic Factor in Children with Langerhans Cell Histiocytosis.

The aim of this study was to investigate the prognostic significance of BRAF in cell-free (cf) DNA (cfBRAF) and lesion tissues (ltBRAF) in pediatric Langerhans cell histiocytosis (LCH). This study included a total of 140 patients with successfully detected cfBRAF and ltBRAF at diagnosis. Treatment response at week 6 was correlated with both cfBRAF and ltBRAF Moreover, the patients with positive cfBRAF had a much lower 3-year progression-free survival (PFS) rate and a higher progression/reactivation rate than those with negative cfBRAF (47.

Combined analysis of deletions and expression on prognostic impact in pediatric B-cell precursor acute lymphoblastic leukemia.

This study aimed to investigate the combined impact of deletions/high expression of on the prognosis of pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL). deletions and expression were assessed in bone marrow samples from 117 children with newly diagnosed BCP-ALL. Sixteen (13.

Low expression of and predicts risk of relapse in childhood B-cell precursor acute lymphoblastic leukemia: a retrospective cohort study.

CtBP is a known corepressor abundantly expressed in cancer and regulates genes involved in cancer initiation, progression, and metastasis. This study aimed to investigate the prognostic significance of expression in a cohort of pediatric patients with B cell precursor acute lymphoblastic leukemia (BCP-ALL). It further evaluated the role of combined and expression in risk of relapse of BCP-ALL.

FKBP12.6 protects heart from AngII-induced hypertrophy through inhibiting Ca /calmodulin-mediated signalling pathways in vivo and in vitro.

We previously observed that disruption of FK506-binding protein 12.6 (FKBP12.6) gene resulted in cardiac hypertrophy in male mice.

Correlations between polymorphisms in the uridine diphosphate-glucuronosyltransferase 1A and C-C motif chemokine receptor 5 genes and infection with the hepatitis B virus in three ethnic groups in China.

Objective To determine whether genetic polymorphisms in the uridine diphosphate-glucuronosyltransferase 1A ( UGT1A) and the C-C motif chemokine receptor 5 ( CCR5) genes are associated with hepatitis B virus (HBV) infection in Yi, Yao and Han ethnic groups in the Guizhou Province of China. Methods The study enrolled subjects with and without HBV infection. Whole blood was used for DNA genotyping using standard techniques.

Transducin β-like 1 X-linked receptor 1 suppresses cisplatin sensitivity in nasopharyngeal carcinoma via activation of NF-κB pathway.

Background: Transducin β-like 1 X-linked receptor 1 (TBL1XR1) is an important transcriptional cofactor involved in the regulation of many signaling pathways, and is associated with carcinogenesis and tumor progression. However, the precise role of TBL1XR1 in these processes is not well understood.

Methods: We detected the expression of TBL1XR1 protein and mRNA in nasopharyngeal carcinoma (NPC) cell lines and biopsies by western blotting, real-time PCR and immunohistochemical staining (IHC).

Characterization of polymorphisms in the mitochondrial DNA of twelve ethnic groups in the Guizhou province of China.

To characterize the genetic profiles and relationships between ancient ethnic populations, we analyzed polymorphisms in mitochondrial DNA (mtDNA) isolated from the blood of 753 members of 12 ethnic groups (Buyi, Dong, Gelao, Hui, Man, Miao, Menggu, Mulao, Maonan, Qiang, She and Zhuang) living in the Guizhou Province of China. The 9-bp deletion of mtDNA was detected by the polymerase chain reaction (PCR) and PCR-PAGE, and 11 SNPs by restriction fragment length polymorphism and mini-sequencing. Thereafter, these genotyping results were verified by PCR-DNA sequencing.

[Analysis of polymorphisms of mitochondrial DNA in 3 ethnic groups of Guizhou].

Objective: To analyze the population genetics characteristics of mitochondrial DNA (mtDNA) in Gelao, Mulao, Maonan ethnic groups from Guizhou.

Methods: Minisequenceing and restriction fragment length polymorphism (RFLP) were used to analyze 12 single nucleotide polymorphism (SNPs) of mitochondrial DNA in the 3 ethnic groups.

Results: A total of 30 haplotypes were detected in 156 samples.

High Expression of FLOT1 Is Associated with Progression and Poor Prognosis in Hepatocellular Carcinoma.

Background: The flotillin family member flotillin-1 (FLOT1) encodes a caveolae-associated, integral membrane protein that belongs to lipid raft family and involves in vesicular trafficking and signal transduction. However, the role of FLOT1 in development and progression of cancer remains largely unknown. The present study was aimed to investigate the clinical and prognostic significance of FLOT1 in hepatocellular carcinoma (HCC).

[Frequencies of 9 bp deletion of mitochondrial DNA in ethnic Miao, Buyi and Dong from Guizhou].

Objective: To study the frequency of a 9 bp deletion polymorphism of mitochondrial DNA (mtDNA) in ethnic Miao, Buyi and Dong populations from Guizhou province.

Methods: Polymerase chain reaction-polyacrylamide gel electrophoresis (PCR-PAGE) was used to detect the 9 bp deletion. The result was verified with DNA sequencing.

[A study of interleukin-10 gene polymorphisms in Miao, Dong and Buyi ethnics of Guizhou].

Objective: To investigate allelic frequencies of interluekin-10 (IL-10) gene promoter in Miao, Dong and Buyi ethnics of Guizhou.

Methods: TaqMan MGB-based real-time PCR was used to determine the genotypes of IL-10 -819 and IL-10 -592 in 589 Miao, Dong and Buyi ethnics of Guizhou.

Results: The allelic frequency of IL-10 -819 in Miao ethnics was significantly different from those in Dong or Buyi ethnics.

[Study on the association between RANTES-403G/A as well as -28C/G gene polymorphism and their susceptibility to the hepatitis B virus infections in Dong and Han ethnicities in Guizhou, China].

Objective: To investigate the association between both regulated upon activation normal T cell expressed and secreted (RANTES) -403G/A, -28C/G gene polymorphism and the susceptibilities to hepatitis B virus (HBV) infection, among people with Dong and Han ethnicities, in Guizhou.

Methods: A total of 229 individuals with HBV persistence infection, 161 HBV clearanced patients and another 200 controls were recruited to conduct a case-control study among residents with Dong or Han ethnicities. Allelic frequencies of both RANTES-403G/A and -28C/G were identified by TaqMan-MGB probe.

[Genetic association between interleukin-10 promoter microsatellite polymorphisms and hepatitis B virus infection in Yi, Yao and Han ethnic populations of Guizhou province].

Objective: To investigate the association between interleukin-10 (IL-10) gene promoter microsatellite polymorphisms and the susceptibility to hepatitis B virus infection in Han, Yi and Yao ethnicities in GuiZhou province.

Methods: 500 volunteers were selected from Guizhou province. Allelic frequency of IL-10.

[Study on the association of IL-10-592 polymorphism with susceptibility to hepatitis B viral infection in Han, Yi and Yao ethnic groups in Guizhou province].

Objective: To investigate the association of IL-10 gene promoter polymorphism with susceptibility to hepatitis B viral infection in Han, Yi and Yao ethnic groups from Guizhou province.

Methods: Five hundred volunteers from Guizhou province were selected to undertake PCR-RFLP for detection of IL-10 gene promoter -592 polymorphism.

Results: The genotypic distributions of IL-10-592 were 32.