Genetics and transcriptomes of pediatric B cell precursor leukemia with gain of chromosome 21

Down syndrome (DS, constitutive trisomy 21) children have a 27-fold increased risk of developing B-ALL (DS-ALL), face a worse outcome due to treatment-related morbidities, and an increased rate of relapses compared to other children. This highlights the need to better understand the mechanisms of DS-associated leukemogenesis to develop more adapted treatment. In this study, we characterized the genetic and transcriptomic landscapes of DS-ALL and found a high incidence of somatic mutations leading to RAS/MAPK pathway activation in DS-ALL, as seen in other pediatric B-ALL presenting somatic gains of the chromosome 21 (B-ALL+21).

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

2 Datasets 1 Publication

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
EGAD00001005425	Whole Exome Sequencing for a cohort of 20 B-ALL samples : 5 Down syndrome (DS), 7 Hyperdiploid (HeH), 3 iAMP21 and 5 others.	Illumina HiSeq 2000	40
EGAD00001005426	RNA-sequencing for a cohort of B-ALL samples : 5 Down Syndrome (DS), 16 Hyperdiploid (HeH), 6 iAMP21, 9 other. RNA-sequencing for B-cell progenitors from 3 healthy. It also contains RNA-sequencing datasets of Patient-Derived Xenografts (X) developed from the B-ALL samples : 4 Down Syndrome (DS), 4 Hyperdiploid (HeH), 1 iAMP21, 3 other.	Illumina HiSeq 2000	51

Publications	Citations
Constitutive Activation of RAS/MAPK Pathway Cooperates with Trisomy 21 and Is Therapeutically Exploitable in Down Syndrome B-cell Leukemia. Laurent AP, Siret A, Ignacimouttou C, Panchal K, Diop M, Jenni S, Tsai YC, Roos-Weil D, Aid Z, Prade N, Lagarde S, Plassard D, Pierron G, Daudigeos E, Lecluse Y, Droin N, Bornhauser BC, Cheung LC, Crispino JD, Gaudry M, Bernard OA, Macintyre E, Barin Bonnigal C, Kotecha RS, Geoerger B, Ballerini P, Bourquin JP, Delabesse E, Mercher T, Malinge S. Clin Cancer Res 26: 2020 3307-3318	13

Publications

Citations

Constitutive Activation of RAS/MAPK Pathway Cooperates with Trisomy 21 and Is Therapeutically Exploitable in Down Syndrome B-cell Leukemia.
Laurent AP, Siret A, Ignacimouttou C, Panchal K, Diop M, Jenni S, Tsai YC, Roos-Weil D, Aid Z, Prade N, Lagarde S, Plassard D, Pierron G, Daudigeos E, Lecluse Y, Droin N, Bornhauser BC, Cheung LC, Crispino JD, Gaudry M, Bernard OA, Macintyre E, Barin Bonnigal C, Kotecha RS, Geoerger B, Ballerini P, Bourquin JP, Delabesse E, Mercher T, Malinge S. Clin Cancer Res 26: 2020 3307-3318