Table 1.

Genomic analysis of relapsed ALL

Population	Diagnosis, remission, relapse (scenarios studied)	Genomic analysis technique*	Patients (N)	Selected findings	Ref.
Pediatric B-ALL	Diagnosis, relapse	SNP arrays	61	Relapsed ALL most frequently represents selection of clones ancestral relative to the diagnostic ALL clone	5
Pediatric t(12;21) B-ALL	Diagnosis, relapse	SNP arrays	18	Recurrent NR3C1 and BMF mutations and mismatch repair defects	18
Pediatric B-ALL	Diagnosis, relapse	SNP arrays	20	EBF1 and IZKF1 deletions enriched at relapse	19
Pediatric high hyperdiploid B-ALL	Diagnosis, relapse	WES	19	CREBBP mutations and KRAS mutations enriched at relapse	8
Pediatric B-ALL	Diagnosis, remission, relapse	Targeted gene sequencing	60	Recurrent somatic mutations in SETD2, CREBBP, MSH6, KDM6A, and MLL2 at relapse	20
Pediatric B-ALL	Diagnosis, remission, relapse	WES/WGS	20	Enrichment of NT5C2, CREBBP, WHSC1, TP53, USH2A, NRAS, and IKZF1 mutations in relapsed disease	21
Pediatric T- and B-ALL	Relapsed	WES	138	NT5C2 mutations at relapse	7
Pediatric B-ALL	Diagnosis, relapse	RNA-seq	10	NT5C2 mutations at relapse	6
Pediatric T- and B-ALL	Diagnosis, remission, relapse	WES and	55 (WES)	Enrichment of NT5C2, TP53, NR3C1, CREBBP, and MLL2 as well as N/KRAS mutations at relapse	4
		RNA-seq	49 (RNA-seq)

^*WES, whole-exome sequencing; WGS, whole-genome sequencing.