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SNP data from Down syndrome and non-Down syndrome pediatric acute lymphoblastic leukemia cases and controls

ABSTRACT: SNP profiling can reveal copy number abnormalities and loss of heterozygosity associated with distinct biologic subtypes of acute lymphoblastic leukemia (ALL). We performed SNP profiling of Down syndrome ALL cases and controls to identify unique biologic features of this ALL subgroup.

ORGANISM(S): Homo sapiens

PROVIDER: GSE21091 | GEO | 2011/07/12

SECONDARY ACCESSION(S): PRJNA129677

REPOSITORIES: GEO

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SNP data from Down syndrome and non-Down syndrome pediatric acute lymphoblastic leukemia cases and controls

Project description:SNP profiling can reveal copy number abnormalities and loss of heterozygosity associated with distinct biologic subtypes of acute lymphoblastic leukemia (ALL). We performed SNP profiling of Down syndrome ALL cases and controls to identify unique biologic features of this ALL subgroup. Ficoll-enriched, cryopreserved bone marrow aspirate samples were obtained from patients with B-precursor ALL at diagnosis and in remission; and from control patients without leukemia.

2011-07-12 | E-GEOD-21091 | biostudies-arrayexpress

Methylation data from Down syndrome and non-Down syndrome pediatric acute lymphoblastic leukemia cases and controls

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Methylation data from Down syndrome and non-Down syndrome pediatric acute lymphoblastic leukemia cases and controls

Project description:Methylation profiling can reveal patterns of hypermethlation and hypomethylation associated with distinct biologic subtypes of acute lymphoblastic leukemia (ALL). We performed methylation profiling of Down syndrome ALL cases and controls to identify unique biologic features of this ALL subgroup. Ficoll-enriched, cryopreserved bone marrow aspirate samples were obtained from patients with B-precursor ALL at diagnosis and in remission

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Expression data from Down syndrome and non-Down syndrome pediatric acute lymphoblastic leukemia cases

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SNP array data for 304 pediatric and adult acute lymphoblastic leukemia cases

Project description:Copy number and LOH analysis was performed for 304 casesof B-progenitor and T-lineage acute lymphoblastic leukemia. All caseswere genotyped with Affymetrix 250k Sty and Nsp arrays. 252 cases werealso genotyped with Hind and Xba arrays. Keywords: Acute leukemia, BCR-ABL1, copy number analysis, loss-of-heterozygosity, genomics *** Due to privacy concerns, the primary SNP array data is no longer available with unrestricted access. Individuals wishing to obtain this data for research purposes may request access using the Web links below. ***

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Genomic profiling in Down syndrome pediatric acute lymphoblastic leukemia

Project description:Patients with Down syndrome (DS) and acute lymphoblastic leukemia (ALL) have distinct clinical and biological features. Whereas most DS-ALL cases lack the sentinel cytogenetic lesions that guide risk assignment in childhood ALL, JAK2 mutations and CRLF2 overexpression are highly enriched. To further characterize the unique biology of DS-ALL, we performed genome-wide profiling of 58 DS-ALL and 35 non-Down syndrome (NDS) ALL cases by DNA copy number, loss of heterozygosity, gene expression, and methylation analyses. We report novel deletions within the 6p22 histone gene cluster as significantly more frequent in DS-ALL, occurring in 12 DS (24%) and only a single NDS case (3%) (Fisher’s exact p = 0.013). Homozygous deletions yielded significantly lower histone expression levels, and were associated with higher methylation levels, distinct spatial localization of methylated promoters, and enrichment of highly methylated genes for specific pathways and transcription factor binding motifs. Gene expression profiling identified CRLF2 overexpression in nearly half DS-ALL cases, and supervised analysis identified an associated 39-gene signature. However, no expression signature was identified for DS-ALL overall, nor for histone status, suggesting that DS-ALL constitutes several, heterogeneous molecular entities. Characterization of pathways associated with histone deletions and high CRLF2 expression may identify opportunities for novel targeted interventions. This SuperSeries is composed of the SubSeries listed below.

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