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 |