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Molecular characterization of T-cell lymphoblastic lymphoma in children and adolescents (Methylation arrays)

ABSTRACT: T-cell lymphoblastic lymphoma (T-LBL) is a heterogeneous malignancy of lymphoblasts committed to T-cell lineage. Dismal outcomes (15-30%) in case of T-LBL relapses warrants for risk-based treatment to be established in future. This is a first comprehensive, systematic, integrated genome-wide analysis including relapse cases aimed towards identifying molecular markers of prognostic relevance for T-LBL. Whole exome sequencing (WES) was performed on “limited cohort” of 16 T-LBL cases which included 6 relapse cases. Validation of WES data was performed on a large cohort (n=131) referred as \\"extended cohort\\". In order to identify copy number alterations and determine the epigenetic changes SNP arrays and methylation arrays were also performed respectively on the \\"limited cohort\\". Activated NOTCH/PI3K-AKT signaling axis and alterations in cell cycle regulators constitutes the core oncogenic program for T-LBL. KMT2D was identified as a prognostic molecular marker, KMT2Dmut and/or PTENmut associated with poor prognosis.

ORGANISM(S): Homo sapiens

SUBMITTER: Tasneem Khanam

PROVIDER: E-MTAB-8762 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Molecular characterization of T-cell lymphoblastic lymphoma in children and adolescents (SNParrays)

Project description:T-cell lymphoblastic lymphoma (T-LBL) is a heterogeneous malignancy of lymphoblasts committed to T-cell lineage. Dismal outcomes (15-30%) in case of T-LBL relapses warrants for risk-based treatment to be established in future. This is a first comprehensive, systematic, integrated genome-wide analysis including relapse cases aimed towards identifying molecular markers of prognostic relevance for T-LBL. Whole exome sequencing (WES) was performed on “limited cohort” of 16 T-LBL cases which included 6 relapse cases. Validation of WES data was performed on a large cohort (n=131) referred as \"extended cohort\". In order to identify copy number alterations and determine the epigenetic changes SNP arrays and methylation arrays were also performed respectively on the \"limited cohort\". Activated NOTCH/PI3K-AKT signaling axis and alterations in cell cycle regulators constitutes the core oncogenic program for T-LBL. KMT2D was identified as a prognostic molecular marker, KMT2Dmut and/or PTENmut associated with poor prognosis.

2020-10-01 | E-MTAB-8763 | biostudies-arrayexpress

Molecular characterization of T-cell lymphoblastic lymphoma in children and adolescents (SNParrays)

Project description:T-cell lymphoblastic lymphoma (T-LBL) is a heterogeneous malignancy of lymphoblasts committed to T-cell lineage. Dismal outcomes (15-30%) in case of T-LBL relapses warrants for risk-based treatment to be established in future. This is a first comprehensive, systematic, integrated genome-wide analysis including relapse cases aimed towards identifying molecular markers of prognostic relevance for T-LBL. Whole exome sequencing (WES) was performed on “limited cohort” of 16 T-LBL cases which included 6 relapse cases. Validation of WES data was performed on a large cohort (n=131) referred as \\"extended cohort\\". In order to identify copy number alterations and determine the epigenetic changes SNP arrays and methylation arrays were also performed respectively on the \\"limited cohort\\". Activated NOTCH/PI3K-AKT signaling axis and alterations in cell cycle regulators constitutes the core oncogenic program for T-LBL. KMT2D was identified as a prognostic molecular marker, KMT2Dmut and/or PTENmut associated with poor prognosis.

2020-12-03 | E-MTAB-9382 | biostudies-arrayexpress

Genomic profiling data of 19 pediatric lympohoblastic lymphoma patients

Project description:Lymphoblastic lymphoma (LBL) is one of the most frequent occurring pediatric non-Hodgkin lymphomas. In the WHO classification scheme pediatric LBL is considered to be the same disease entity as pediatric acute lymphoblastic leukemia (ALL). However, it is unclear whether the genetic basis of pediatric LBL development is similar to that of pediatric ALL. We performed genome-wide analyses of copy number aberrations in 12 T-LBL and 7 precursor B-cell LBL pediatric cases using high-resolution SNP-based array CGH. Similar to what previously has been found in T-ALLs, T-LBLs exhibited recurrent deletions of the CDKN2A locus, occurring in 92% of the cases. Additionally, we detected deletions of RB1 (16%), duplications of MYB (16%) and an amplification of ABL1 in one case. These results show that, similar to T-ALL, the genomic alterations in T-LBL predominantly target genes involved in cell cycle progression. The majority of precursor B-cell LBLs was characterized by high-hyperdiploidy (71%), and showed high resemblance with high-hyperdiploid precursor B-cell ALLs. These results show that, similar to T-ALL, the genomic alterations in T-LBL predominantly target genes involved in cell cycle progression and that high-hyperdiploidy is a commen event in B-LBL. Taken together, our data suggest that pediatric LBLs and ALLs exhibit similar genomic abnormalities within confined immunophenotypic and cytogenetic subgroups, but that the representations of these subgroups differs between the two entities. Copy number detection was performed using CNAG2.0 software, Reference genomes are included in this data set Keywords: comparative genome hybridization

2009-02-01 | GSE12660 | GEO

Spatial intratumor heterogeneity of epigenetic alterations in esophageal squamous cell carcinoma

Project description:Esophageal squamous cell carcinoma (ESCC) is among the most common malignancies, but little is known about the spatial intratumor heterogeneity (ITH) and the temporal clonal evolutionary processes in this cancer. Interestingly, the epigenetic profiling also showed strong evidence of spatial ITH, and the phyloepigenetic trees were extremely similar with the phylogenetic ones, indicating the interplay and co-dependency of genetic and epigenetic alterations in ESCC. We found that several genes were both mutated and hypermethylated at their promoters, such as ASXL1 and EPHA7. Our integrated investigations of the spatial ITH and the temporal clonal evolution might provide insights into developing biomarkers for early diagnosis of ESCC, as well as personalized therapeutic targets for treating this malignancy. DNA methylation profiles of 12 tumor regions and 2 matched normal esophageal epithelial tissues from three M-WES-examined ESCC cases (ESCC01, ESCC03 and ESCC05) were performed using Illumina Infinium HumanMethylation450K platform (Illumina, San Diego, CA) at the Epigenome Center of University of Southern California.

2016-08-20 | E-GEOD-79366 | biostudies-arrayexpress

Whole-exome sequencing identifies mutations of BCOR in acute myeloid leukemia with normal karyotype

Project description:Among acute myeloid leukemias (AML) with normal karyotype (CN-AML), NPM1 and CEBPA mutations define WHO provisional entities accounting for ~60% of cases, but the remaining ~40% remains poorly characterized. By whole exome-sequencing (WES) of one CN-AML patient lacking mutations in NPM1, CEBPA, FLT3, MLL-PTD and IDH1, we newly identified a clonal somatic mutation in BCOR (BCL6 co-repressor), a gene located in chromosome X. Further analyses showed that BCOR mutations occurred in 11/262 (4.2%) CN-AML cases and represented a substantial fraction (14/82, 17.1%) of CN-AML patients showing the same genetic background as the index patient subjected to WES. BCOR somatic mutations were: i) disruptive events similar to germline BCOR mutations causing the oculo-cranio-facial-dental (OCFD) genetic syndrome; ii) associated with markedly decreased BCOR mRNA levels, absence of full-length BCOR and absent or low expression of a truncated BCOR protein; iii) almost mutually exclusive with NPM1 mutations and frequently associated with DNMT3A and RUNX1 mutations, pointing to a cooperation between these events. Finally, BCOR mutations correlated with poor outcome among a cohort of 160 CN-AML patients (28% versus 66% overall survival at 2 yrs, P=0.024). Our results implicate for the first time BCOR in the pathogenesis of CN-AML without NPM1 mutations. AML samples with normal karyotype were studied. Molecular analyses were performed for BCOR mutations. 12 BCOR wild-type cases and 12 BCOR mutated cases were hybridized to gene expression micro-arrays.

2011-12-16 | E-GEOD-30442 | biostudies-arrayexpress

Epigenome analysis of relapse and relapse-free T-cell lymphoblastic lymphoma

Project description:Genome-wide DNA methylation profiling of relapse and relapse-free T-cell lymphoblastic lymphoma (T-LBL) samples. The Illumina 850k Human DNA methylation EPIC BeadChip was used to obtain DNA methylation profiles across approximately 850,000 CpGs in T-LBL samples. Samples included 21 relapse T-LBL samples, and 28 relapse-free T-LBL samples.

2020-05-04 | GSE131677 | GEO

Homo sapiens

Project description:WES of Familial Spanish Testicular Cancer Cases (CNIO)

| PRJNA429717 | ENA

DNA methylation analysis in infants with low and high body fatness

Project description:We combined genome-wide DNA methylation profiling of buccal cells from 47 full-term one-week old infants with accurate measurements of infant fat mass and fat-free mass using air-displacement plethysmography and found no significant a between DNA methylation and infant body composition

2020-11-11 | E-MTAB-9596 | biostudies-arrayexpress

Whole-exome sequencing identifies mutations of BCOR in acute myeloid leukemia with normal karyotype

2011-12-16 | GSE30442 | GEO

Ultrasonographic characteristics, genetic features, and maternal and fetal outcomes in fetuses with omphalocele: a single tertiary center experience

Project description:Routine karyotyping combined with CMA testing should be provided for fetuses with omphalocele. WES is an option if karyotype and CMA tests are normal. In addition, if conventional karyotype, CMA detection and WES detection are normal, then further molecular biology methods can be used to rule out disease phenotypes like BWS syndrome. We analyzed the ultrasonographic features, genetic characteristics, and maternal and fetal outcomes of fetuses with omphalocele and provide a reference for perinatal management of such cases.

2023-09-27 | GSE235430 | GEO

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