Abstract
ERG-related leukemia is a B cell precursor acute lymphoblastic leukemia (BCP ALL) subtype characterized by aberrant expression of DUX4 and ERG transcription factors, and highly recurrent ERG intragenic deletions. ERG-related patients have remarkably favorable outcome despite a high incidence of inauspicious IKZF1 aberrations.We describe clinical and genomic features of the ERG-related cases in an unselected cohort of B-other BCP ALL pediatric patients enrolled in the AIEOP ALL 2000 therapeutic protocol. We report a small noncoding RNA signature specific of ERG-related group, with up-regulation of miR-125b-2 cluster on chromosome 21 and several snoRNAs in the Prader-Willi locus at 15q11.2, including the orphan SNORD116 cluster.
Keywords:
B cell precursor acute lymphoblastic leukemia; ERG aberrations; SNORD116; miR-125; noncoding RNAs.
MeSH terms
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Adolescent
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Antineoplastic Agents / therapeutic use
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Biomarkers
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Child
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Child, Preschool
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Chromosome Aberrations
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Chromosomes, Human, Pair 15
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Chromosomes, Human, Pair 21 / genetics
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Cohort Studies
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Female
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Gene Expression Profiling
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Gene Expression Regulation, Neoplastic
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Gene Expression*
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Humans
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Infant
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Male
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MicroRNAs / genetics*
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Multigene Family*
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Prader-Willi Syndrome / genetics
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Prader-Willi Syndrome / metabolism
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Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / drug therapy
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Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / genetics*
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Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / metabolism*
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Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / pathology
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Quantitative Trait Loci
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RNA, Small Nucleolar / genetics*
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Sequence Deletion
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Transcriptional Regulator ERG / genetics
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Transcriptional Regulator ERG / metabolism*
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Transcriptome
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Treatment Outcome
Substances
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Antineoplastic Agents
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Biomarkers
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MIRN125 microRNA, human
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MicroRNAs
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RNA, Small Nucleolar
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SNORD116 RNA, human
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Transcriptional Regulator ERG