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Genetic landscape of pediatric Infant Acute Lymphoblastic leukemia

We performed whole genome sequencing of tumor and normal DNA samples obtained from 22 infant ALL cases with MLL rearrangements. In addition, we sequenced 2 paired diagnostic-relapse samples. Using complementary pipelines, somatically acquired genetic changes were analyzed, including single nucleotide variations (SNVs), insertion/deletions, structural variations and copy number variations in the cancer genomes. In addition, exome sequencing was performed on paired diagnostic and normal DNA samples obtained from 20 cases of non-infant MLL rearranged leukemias and somatic mutations in the coding regions were identified.

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
EGAD00001000165 Illumina HiSeq 2000 46
EGAD00001001098 Illumina HiSeq 2000 63
EGAD00001001245 Illumina HiSeq 2000 40
EGAD00001001432 Illumina HiSeq 2000 1337
EGAD00001001433 Illumina HiSeq 2000 906
EGAD00010000698 -
Publications Citations
Assessing telomeric DNA content in pediatric cancers using whole-genome sequencing data.
Genome Biol 13: 2012 R113
The landscape of somatic mutations in infant MLL-rearranged acute lymphoblastic leukemias.
Nat Genet 47: 2015 330-337
Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia.
PLoS Genet 11: 2015 e1005262
The landscape of coding RNA editing events in pediatric cancer.
BMC Cancer 21: 2021 1233
Multi-omics analysis defines highly refractory RAS burdened immature subgroup of infant acute lymphoblastic leukemia.
Nat Commun 13: 2022 4501
A convergent malignant phenotype in B-cell acute lymphoblastic leukemia involving the splicing factor SRRM1.
NAR Cancer 4: 2022 zcac041
Comprehensive analysis of mutational signatures reveals distinct patterns and molecular processes across 27 pediatric cancers.
Nat Cancer 4: 2023 276-289