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Table 1 Characteristics of patients with ETV6-ACSL6 rearrangement

From: ETV6-ACSL6 fusion gene in myeloid neoplasms: clinical spectrum, current practice, and outcomes

No

Age

Sex

Diagnosis

Symptoms

WBC (× 109/L)

Eos (%)

Baso (%)

Blasts (%)

Hb (g/L)

Plt (×109/L)

BM

Cytogenetics

Rearrangement rate

Treatments

OS

Ref

1

68

F

RAEB

N/A

28.2

3

69

23

84

375

30.8% myeloblasts, 5.4% baso

t(5;12)(q31;p13)

N/A

Ara-C

0.75 month

[5]

2

27

M

AML

relapse of AML-M2

41.1

42

N/A

38

N/A

N/A

dry tap

t(5;12)(q31;p13)

N/A

chemotherapy (not specified)

1 month

[5]

3

53

M

AEL

back pain, fever, dyspnea

59.5

69

3

N/A

normal

141

3.2% myeloblasts, 11.2% promyelocytes, 49.2% matured eos

t(5;12)(q31;p13)

N/A

both steriod, cyclophosphamide, etoposide and Ara-C with VCR were ineffective;

11 months

[5]

iDA: CR, relapsed in 2 months;

Inf-α

4

49

M

aCML

N/A

N/A

Increased

N/A

N/A

N/A

N/A

N/A

t(5;12)(q31;p13)

N/A

N/A

N/A

[6]

5

29

M

PV

dyspnea

11.2

16

0

N/A

21

522

2% myeloblasts, 6% eos

t(5;12)(q23–31;p13)

13%

phlebotomy

>  42 months

[7]

6

31

F

PV to AML

N/A

18.2

N/A

N/A

N/A

13

278

PV 1% myeloblasts, 1% eos

t(5;12)(q23–31;p13)

4%

phlebotomy, splenic irradiation, purinethol for PV; Ara-C for AML

25 years after diagnosis of PV; 3 days after acutization

[7]

AML 20% blasts, 2% baso

7

44

M

MDS

N/A

22.7

39

42

N/A

55

85

N/A

t(5;12)(q31;p13), + 8

N/A

Ara-C, STI571, allo-SCT

>  8 months

[8]

8

42

M

MDS/MPN

N/A

N/A

N/A

N/A

N/A

N/A

N/A

N/A

t(5;12)(q31;p13)

N/A

N/A

N/A

[9]

9

55

M

secondary AML

N/A

N/A

N/A

N/A

N/A

N/A

N/A

N/A

t(5;12)(q31;p13)

90%

N/A

N/A

[2]

10

61

M

MPN

N/A

N/A

N/A

N/A

N/A

N/A

N/A

N/A

t(5;12)(q31;p13)

45%

N/A

N/A

[2]

11

51

M

CEL-NOS

dyspnea, palpitations

21.6

84

N/A

N/A

77

84

eos in various stages of maturation; no increase of blasts

t(5;12)(q31–33;p13)

80%

Imatinib, Inf-α

9 months

[3]

12

52

M

CEL-NOS

fatigue, muscle pain

N/A

13.3

N/A

N/A

mild anemia

normal

marked eos, no increase of blasts

t(5;12)(q31;p13)

45%

Imatinib

>  3 months

[10]

13–15

58 (38–71)

M (n = 2)

Eos-MPN (n = 2)

N/A

N/A

8.1 (2.3 to 62)

N/A

N/A

N/A

N/A

N/A

t(5;12) (n = 2)

N/A

Imatinib (n = 2), Sorafenib (n = 2)

64, 67 days (allo-SCT)

[11]

F (n = 1)

secondary AML (n = 1)

complex karyotype with 5q and 12p (n = 1)

allo-SCT (n = 2)

7 months (without allo-SCT)

16

37

F

CEL-NOS

fever, rashes, weight loss

42.4

53

28

N/A

70

24

7% myeloblasts, increased eos and baso

N/A

17.83%

DA, allo-SCT

15 months (still CR)

Present case

  1. RAEB Refractory anemia with excess blasts, AML Acute myeloid leukemia, AEL Acute eosinophilic leukemia, aCML Atypical chronic myeloid leukemia, PV Polycythemia vera, MDS Myelodysplastic syndrome, MPN Myeloproliferative neoplasms, CEL-NOS Chronic eosinophilic leukemia, not otherwise specified, WBC White blood cell, Eos Eosinophils, Baso Basophils, Hb Hemoglobin, Plt Platelet, BM Bone marrow smear, allo-SCT Allogeneic hematopoietic stem cell transplantation, Ara-C Cytarabine, iDA Idarubicin, cytarabine, Inf-α Interferon-α, DA Daunorubicin, cytarabine, OS Overall survival, CR Complete response