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Table 2 – Clinical and molecular characteristics of relapsed patients

From: Molecular characterization and predictors of relapse in patients with Ph + ALL after frontline ponatinib and blinatumomab

Patient

Age

WBC at diagnosis (x 109/L)

Transcript type

Mutations (targeted sequencing)

Gene deletions (SNP array)

NGS MRD response after C1

PCR MRD response after C1

Duration of CR1 (months)

Type of relapse

#1

57

2.0

p190

IKZF1

CDKN2A/B,

PAX5,

VPREB1, BTG1, RB1, XBP1

Negative

CMR

8.6

Peritoneum and lymph nodes (Ph-negative)

#2

60

322.1

p190

IKZF1

CDKN2A/B, PAX5

Not done

CMR

24.5

Bone marrow

#3

44

152.6

p190

None

CDKN2A/B

Positive (1/million)

CMR

7.6

Bone marrow

#4

18

4.5

p190

None

Not done

Positive

(below LOD)

CMR

11.3

Bone marrow

#5

48

95.5

p190

None

IKZF1, CDKN2A/B, PAX5, BTG1

Not done

Not done

17.0

Bone marrow + vitreous fluid

#6

28

270.5

p190

Not done

IKZF1, CDKN2A/B, PAX5, VPREB1

Not done

CMR

22.0

CNS

#7

43

12.9

p190

BCORL1

IKZF1, VPREB1

Negative

CMR

19.8

CNS

#8

49

84.9

p190

None

IKZF1, CDKN2A/B, RB1, XBP1

Not done

CMR

23.2

CNS

#9

44

236.7

p190

None

IKZF1, CDKN2A/B, XBP1

Positive (57/million)

CMR

8.5

CNS

#10

70

181.2

p210

DNMT3A, SF3B1, TET2

IKZF1

Positive (below LOD)

CMR

20.7

CNS

  1. Abbreviations: WBC, white blood cell; SNP, single nucleotide polymorphism; NGS, next-generation sequencing; MRD, measurable residual disease; C1, cycle 1; LOD, level of detection; PCR, polymerase chain reaction; CMR, complete molecular response; CR1, first remission; Ph, Philadelphia chromosome; CNS, central nervous system