Study

Mullighan - PAX5-driven Subtypes

Study ID Alternative Stable ID Type
EGAS00001003266 Other

Study Description

Using integrated genomic analysis of 1.988 childhood and adult cases, we describe a revised taxonomy of B-cell acute lymphoblastic leukemia, which incorporates 23 subtypes defined by chromosomal rearrangements, sequence mutations, or heterogeneous genomic alterations. Two subtypes have frequent alterations of the B lymphoid transcription factor gene PAX5. One, PAX5alt, has diverse PAX5 alterations, and a second subtype is defined by a single mutation, PAX5 P80R. We show that P80R impairs B lymphoid development and promotes the development of B-ALL in vivo. These results demonstrate the utility of transcriptome sequencing to classify B-ALL and reinforce the central role of PAX5 as a checkpoint in B lymphoid maturation and leukemogenesis.

Study Datasets 8 datasets.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001004446
WGS files for Mullighan PAX5_B-ALL paper titled "PAX5-driven Subtypes of B-cell Acute Lymphoblastic Leukemia"
Illumina HiSeq 2000 16
EGAD00001004447
WES files for Mullighan PAX5_B-ALL paper titled "PAX5-driven Subtypes of B-cell Acute Lymphoblastic Leukemia"
Illumina HiSeq 2000 128
EGAD00001004461
RNAseq files (dataset 1 of 2) for Mullighan PAX5_B-ALL paper titled "PAX5-driven Subtypes of B-cell Acute Lymphoblastic Leukemia"
Illumina HiSeq 2000 1083
EGAD00001004463
RNAseq files (dataset 2 of 2) for Mullighan PAX5_B-ALL paper titled "PAX5-driven Subtypes of B-cell Acute Lymphoblastic Leukemia"
Illumina HiSeq 2000 204
EGAD00010001635
Over 1.87 million SNP and CNV loci are screened by Affymetrix SNP 6.0 array
415
EGAD00010001636
Over 2.5 million SNP and CNV loci are screened by Illumina Infinium Omni2.5Exome-8 Kit
196
EGAD00010001637
Over 1.87 million SNP and CNV loci are screened by Affymetrix SNP 6.0 array
539
EGAD00010001638
Over 2.5 million SNP and CNV loci are screened by Illumina Infinium Omni2.5Exome-8 Kit
262

Who archives the data?

Publications

Citations

Retrieving...
Retrieving...
Retrieving...
Retrieving...