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Chromosomal aberrations in ETV6/RUNX1 positive cases using high-resolution 244K oligo-based array-CGH

ABSTRACT: Identification of chromosomal deletion and duplications in childhood acute lymphoblastic leukemia with t(12;21). This study was performed to correlate clinical parameters with chromosomal aberrations by array-CGH and to identify other potential novel cancer genes involved in leukaemia. In brief, PALL-6 was a Malay male diagnosed with B-ALL, had undergone a remission but late relapse and passed away. He was assessed under medium risk. PALL-7 is a Malay male and has a medium risk assessment, and is currently in remission. PALL-8 is a Malay female and has a medium risk assessment, and is currently in remission. PALL-9 is a Chinese male and has a high risk assessment, and is currently in remission. PALL-10 is a Malay male and has a standard risk assessment, had a relapse but is currently in remission. PALL-11 was a Malay male and had a medium risk assessment, but died during transplant.

ORGANISM(S): Homo sapiens

PROVIDER: GSE32897 | GEO | 2012/06/20

SECONDARY ACCESSION(S): PRJNA146641

REPOSITORIES: GEO

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Chromosomal aberrations in ETV6/RUNX1 positive cases using high-resolution 244K oligo-based array-CGH

Project description:Identification of chromosomal deletion and duplications in childhood acute lymphoblastic leukemia with t(12;21). This study was performed to correlate clinical parameters with chromosomal aberrations by array-CGH and to identify other potential novel cancer genes involved in leukaemia. In brief, PALL-6 was a Malay male diagnosed with B-ALL, had undergone a remission but late relapse and passed away. He was assessed under medium risk. PALL-7 is a Malay male and has a medium risk assessment, and is currently in remission. PALL-8 is a Malay female and has a medium risk assessment, and is currently in remission. PALL-9 is a Chinese male and has a high risk assessment, and is currently in remission. PALL-10 is a Malay male and has a standard risk assessment, had a relapse but is currently in remission. PALL-11 was a Malay male and had a medium risk assessment, but died during transplant. array-CGH was carried out on 11 cases of childhood acute lymphoblastic leukemia with t(12;21) diagnosed by molecular and FISH techniques. Commercial male and female genomic DNA were used as the references.

2012-06-19 | E-GEOD-32897 | biostudies-arrayexpress

Time-series Gene Expression Profiling of Childhood Acute Lymphoblastic Leukemia

Project description:ALL is the most common form of childhood cancer with >80% cured with contemporary treatment protocols. Accurate risk stratification in childhood ALL is essential to avoid under- and over-treatment. Currently, we use presenting clinical, biological features, and minimal residual disease (MRD) quantitation to risk stratify patients. Although whole genome gene expression profiling (GEP) can accurately classify patients with ALL into various WHO 2008 defined subgroups, its value in predicting relapse remained to be defined. We hypothesized that global time-series GEPs of bone marrow (BM) samples at diagnosis and specific points during initial remission-induction therapy can measure the success of cytoreduction and be used for relapse prediction. We generated time-series GEPs from 210 children with de novo ALL at diagnosis, and Day 8 of remission-induction therapy. We computed the time-series changes from diagnosis to follow-up time point of remission-induction, termed Effective Response Metric (ERM), that measures both the magnitude and direction of time-series change in multi-dimensional gene space towards the normal centroid, and we compared its ability to predict relapse against contemporary risk assignment methods including NCI criteria, cytogenetics and MRD.

2016-05-26 | GSE67684 | GEO

Discovery of biomarker candidates associated with the risk of short- and long-term relapse after infliximab withdrawal in Crohns patients: a proteomics-based study

Project description:Objective: A subset of Crohns disease (CD) patients experiences long-term remission after infliximab withdrawal. Biomarkers are needed to identify those patients.Design: New biomarkers of relapse were searched in the baseline serum of CD patients stopping infliximab when they were under combined therapy (antimetabolite and infliximab) and stable clinical remission (STORI cohort, n=102). From shotgun proteomics experiment (discovery step), biomarker candidates were identified and further targeted by selected reaction monitoring (verification step). The dataset was stratified to search for markers of short- (<6 months) or long-term relapse (>6 months). The risk of relapse and the predicting capacity associated with biomarker candidates were evaluated using univariate Cox model and log-rank statistic, respectively. To test their complementary predicting capacity, biomarker candidates were systematically combined in pairs. Results: Distinct biomarker candidates were associated with the risk (hazard ratio: HR) of short- (15 proteins, 2.9<HR<16.1, p<0.05) and long-term (17 proteins, 2<HR<4.4, p<0.05) relapse, they reflect different pathophysiological processes. In stratified and non-stratified datasets, novel marker combinations exhibited a high predicting capacity as shown by their higher Z-scores (FDR<0.001) than CRP and faecal calprotectin (current references in predicting relapse). Conclusion: We identified for the first time circulating biomarker candidates associated with the risk of long-term relapse in CD patients stopping infliximab. We also highlight a sequence of pathophysiological processes leading to relapse, this could help to better understand the disease progression. Our findings may pave the way for a better non-invasive evaluation of the risk of relapse when contemplating anti-TNFα withdrawal in CD patients.

2020-10-19 | PXD019008 | Pride

Small nucleolar RNA and microRNA expression data from multiple sclerosis patients in relapse and remission.

Project description:Multiple sclerosis is a common inflammatory and degenerative disease that causes neurological disability. It affects young adults and its prevalence is higher in women. The most common form is manifested as a series of acute episodes of neurological disability (relapses) followed by a recovery phase (remission). Recently, non-coding RNAs have emerged as new players in transcriptome regulation, and in turn, they could have a significant role in MS pathogenesis. In this context, our aim was to investigate the involvement of microRNAs and snoRNAs in the relapse-remission dynamics of MS in peripheral blood leucocytes, to shed light on the molecular and regulatory mechanisms that underlie this complex process. With this approach, we found that a subset of small non-coding RNAs (sncRNA) is altered in relapse and remission, revealing unexpected opposite changes that are sex dependent. Furthermore, we found that a relapse-related miRNA signature regulated general metabolism processes in leucocytes, and miRNA altered in remission are involved in the regulation of innate immunity. We observed that sncRNA dysregulation is different in relapse and remission leading to differences in transcriptome regulation, and that this process is sex dependent. In conclusion, relapse and remission have a different molecular background in men and women. 24 multiple sclerosis patients with samples both in remission and relapse (2 samples for each patient; 48 blood samples in total) and 24 healthy controls were included in the study, for a total of 72 samples.

2015-11-03 | E-GEOD-74579 | biostudies-arrayexpress

CircRNA expression-profiling to predict prognosis in locoregionally advanced nasopharyngeal carcinoma

Project description:CircRNAs serve as prognostic biomarkers in various types of cancer. We aimed to identify a circRNA signature for individual relapse risk assessment in patients with locoregionally advanced nasopharyngeal carcinoma (LA-NPC).

2023-12-21 | GSE190271 | GEO

Affymetrix SNP array data for Healthy Individual Malay Sub-Ethnic Group

Project description:The Malaysian Node of the Human Variome Project Database (MyHVPDb) is a country specific database of human variant and gene mutation that was established in 2011. This ethnic specific mutation and variation databases are being continuously updated, recording extensive information over the genetic heterogeneity of the Malaysian ethnic groups. The database comprises of SNP Database and Mutation Database. The SNP database has stored 291718 SNPs that was obtained by genotyping the SNPs of 101 healthy individuals from six Malay sub-ethnic groups which consist of Malay Kelantan, Malay Banjar, Malay Kedah, Malay Jawa, Malay Bugis and Malay Champa.

2015-02-11 | GSE65760 | GEO

Gene network analysis reveals a role for striatal glutamatergic receptors in dysregulated risk-assessment behavior of autism mouse models

Project description:Autism Spectrum Disorder (ASD) presents a wide, and often varied, behavioral phenotype. Impulsivity and improper assessment of risks has been widely reported among individuals diagnosed with ASD. However, there is little knowledge of the molecular underpinnings of the impaired risk-assessment phenotype. In this study, we have identified impaired risk-assessment activity in multiple male ASD mouse models. By performing network-based analysis of striatal whole transcriptome data from each of these ASD models, we have identified a cluster of glutamate receptor–associated genes that correlate with the risk-assessment phenotype. Furthermore, pharmacological inhibition of striatal glutamatergic receptors was able to mimic the dysregulation in risk-assessment. Therefore, this study has identified a molecular mechanism that may underlie impulsivity and risk-assessment dysregulation in ASD.

2019-10-08 | GSE138539 | GEO

Affymetrix SNP array data for Healthy Individual Malay Sub-Ethnic Group

2015-02-11 | E-GEOD-65760 | biostudies-arrayexpress

Small nucleolar RNA and microRNA expression data from an MS patient's and a healthy control's PBMC cultures stimulated with phytohemagglutinin.

2015-11-03 | GSE74582 | GEO

Small nucleolar RNA and microRNA expression data from multiple sclerosis patients in relapse and remission.

2015-11-03 | GSE74579 | GEO