Table 1 Molecular events biased towards subgroups. Samples from early relapse (ER; time of REL <700 days) showed a bias towards deletions involving the CDKN2A/B locus as 13 of the 15 deletions were associated with an early relapse as well as mutations or copy number losses of PTPRD (7/7).

From: Integrated analysis of relapsed B-cell precursor Acute Lymphoblastic Leukemia identifies subtype-specific cytokine and metabolic signatures

Gene

Early Relapse (ER) Patients (n = 25)

Late Relapse (LR) Patients (n = 25)

p-value

CDKN2B

13 deletions

2 deletions

<0.01

CDKN2A

13 deletions

3 deletions

<0.01

PTPRD

7 (6 deletions/1 mutation)

0 alterations

<0.01

PRSS3

8 (7 deletions/1 mutation)

1 deletion

0.02

IKZF1

2 (1 deletion/1 mutation)

9 (4 mutations/3 deletions/2 double hits)

0.04

 

Pediatric Patients (n = 26)

Adult Patients (n = 24)

 

NR3C1

7 (6 deletions/1 mutation)

0 alterations

0.01

CREBBP

1 deletion

7 (5 mutations/2 deletions)

0.02

KMT2D

1 mutation

6 mutations

0.05

EZH2

0 alterations

4 (2 mutations/2 deletions)

0.05

TP53

3 (2 double hits/1 mutation)

8 (3 double hits/3 mutations/2 deletions)

0.09

NT5C2

4 mutations

0 alterations

0.11

  1. Mutations and copy number losses of IKZF1 were observed in 9 of 11 patients with IKZF1 alterations in ID and/or REL relapsed later than 700 days and thus revealed a clear tendency to late relapse. NR3C1 was deleted (n = 6) and mutated (n = 1) exclusively in pediatric samples. Acronyms used: ER (early relapse), LR (late relapse), ID (initial diagnosis), REL (relapse).