Study

Genetic landscape of Early T-cell precursor acute lymphoblastic leukaemia

Study ID Alternative Stable ID Type
EGAS00001000348 Whole Genome Sequencing

Study Description

Early T-cell precursor acute lymphoblastic leukaemia (ETP ALL) is an aggressive malignancy of unknown genetic basis. We performed whole-genome sequencing of 12 ETP ALL cases and assessed the frequency of the identified somatic mutations in 94 T-cell acute lymphoblastic leukaemia cases. ETP ALL was characterized by activating mutations in genes regulating cytokine receptor and RAS signalling (67% of cases; NRAS, KRAS, FLT3, IL7R, JAK3, JAK1, SH2B3 and BRAF), inactivating lesions disrupting haematopoietic development (58%; GATA3, ETV6, RUNX1, IKZF1 and EP300) and histone-modifying genes (48%; EZH2, EED, SUZ12, SETD2 and EP300). We also identified new targets of recurrent mutation including DNM2, ECT2L and RELN. The mutational spectrum is similar to myeloid tumours, and moreover, the global transcriptional profile of ETP ALL was similar to that of normal and myeloid leukaemia haematopoietic stem cells. These findings suggest that addition of myeloid-directed therapies might improve the poor outcome of ETP ALL.

Study Datasets 4 datasets.

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Dataset ID Description Technology Samples
EGAD00001001052
DATA FILES FOR SJTALL
Illumina HiSeq 2000 24
EGAD00001001352
Data files for CONSERTING (WGS)
Illumina HiSeq 2000 38
EGAD00001001432
PCGP Germline Study Whole Genome Sequencing
Illumina HiSeq 2000 1337
EGAD00001001433
PCGP Germline Study Whole Exome Sequencing
Illumina HiSeq 2000 906

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