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 |
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