Table 1 Reported cases of ETV6-ABL1 fusion in acute lymphoblastic leukemia (ALL), acute myeloid leukemia (AML), and myeloproliferative neoplasm (MPN), including chronic myelogenous leukemia (CML)
Reference | Age/Sex | Karyotype | FISH | Transcript |
|---|---|---|---|---|
Acute lymphoblastic leukemia (ALL) | ||||
[23] | 22 mo/F | N/A | N/A | Type A |
[24] | 4 yo/M | 47,XXYc,del(6)(q15q23)[35]/47,XXYc[7] | Intact ETV6 (5’ and 3’) on derivative 9 | Type A and B |
[25] | 30 yo/M | 45,XY,der(1)t(1;9)(q41;q?),der(9)t(9;13)(q?;q12.3),del(9p21.1 ~ p23),-13,der(16)t(16;22)(p13.3;q11.2) | ABL1 signal on apparently normal chromosome 12 | Type A and B |
[26] | 8 yo/F | N/A | N/A | Type A and B |
[7] | 8 yo/M | 46,XY, der(1)inv(1) (p11p34.2)t(1;9)(p11;p21)del(1)(q41),der(9)t(9;12) (q34.3;p13.3),der(9)t(1;9)(p11;p21),der(12)t(1;9;12) (q41?;q34.3;p13.3)[14]/46,XY)[5] | Normal signal patterns | Type A and B |
[7] | 5 yo/M | 46,XY[20] | Normal signal patterns | Type A and B |
[7] | 33 yo/F | 46,XX,t(8;9;12)(p12;q34;p13)[22] | ABL1 signal on 12p | Type A and B |
[13] | 25 yo/F | 46,XX,del(9)(p22),der(10)t(9;10)(q22; p15)[12]/46,XX[8] | N/A | Type A and B |
[27] | 58 yo/M | 46,XY,t(9;12)(q34;p13)[2]/45,XY, −2,−14,+17[2]/46,XY[16] | N/A | Type A and B |
[27] | 49 yo/F | 46,XY,t(9;12)(q34;p13)[10] | N/A | Type A and B |
[12] | 30 yo/F | 47,XX,+5[19]/46,XX[1] | Extra ETV6 and ABL1 signals in interphase nuclei | Type A and B |
Acute myeloid leukemia (AML) | ||||
[3] | 81 yo/M | t(9;12;14)(q34;p13;q22) in the context of complex karyotype | ETV6 signal on derivative 14 with concomitant deletion of other ETV6 allele | Type B |
[4] | 29 yo/F | 46,XY,t(8;12)(p21;p13)[15] | 5’ ETV6 and ABL1 signals on derivative 8 | Type A |
[4] | 48 yo/F | 46,XY,t(9;12)(q34;p13)[18/20]/51,XY,+8,+9,t(9;12)(q34;p13),+12,+14,+17[2] | 5’ ETV6 signal on derivative 9 | Type B |
[14] | 38 yo/M | 49,XY,+11,t(9;12)(q34;p1?), +der(12)t(9;12),+19,der(22)t(1;22)(q21;q11) | ETV6-ABL1 fusion signals on 2 homologues of chromosome 12 | Type A and B |
[13] | 52 yo/M | 46,XY[20] | ABL1 signal on apparently normal chromosome 12 | Type B |
Myeloproliferative neoplasm (MPN), including chronic myeloid leukemia (CML) | ||||
[28] | 49 yo/M | N/A | N/A | Type B |
[2] | 32 yo/M | t(12;14)(p12;q11-13)[24]/46,XY[1] | 5’ ETV6 on apparently normal chromosome 9 | Type B |
[24] | 59 yo/M | 46,XY,del(6)(p21),?t(9;12)(q34;p12)[16] | 5’ ETV6 on derivative 9q | Type A and B |
[29] | 44 yo/F | 46,XX,t(9;12)(q34;p13)[16]/46,XX[4] | 5’ ETV6 on derivative 9q | N/A |
[30] | 53 yo/M | 46,XY[20] | Normal signal patterns | Type A and B |
[20] | 36 yo/M | 45,XY,-7,t(9;12)(q34;q13)[2]/45,idem,t(12;13)(p12;q13)[10]/46,XY[13] | ABL1 signal on derivative 12 | Type A |
[6] | 72 yo/M | 46,XY,t(12;17) (p11.2;p11.2) | ABL1 and ETV6 signals on derivative 17 | Type B |
[31] | 65 yo/F | 46,XX,t(5;9)(q13;q34) | 3’ ABL1 on 12p | Type B |
[32] | 57 yo/M | 46,XY | 3’ ABL1 on 12p | N/A |
[18] | 24 yo/F | 46,XX | ETV6 signal on apparently normal chromosome 9 | Type A and B |
[33] | 61 yo/F | 46,XX,add(9)(q34) | ETV6 signal on derivative chromosome 9 | N/A |
[21] | 79 yo/M | 46,XY | ABL1 signal on apparently normal chromosome 12 | N/A |
[22] | 36 yo/M | 46,XY,t(9;12)(q34;p13) | Extra ABL1 signal (interphase FISH) | Type B |
[1] | 46/F | 46,XY,t(9;12)(q34;p13)[10] | Extra ETV6 and ABL1 signals (interphase FISH) | Type B |
[5] | N/A | Complex rearrangement involving chromosomes 6, 9, and 12 | Suggestive of ETV6-ABL1 fusion | N/A |
[34] | 31 yo/M | 46,XY,der(9)t(9;12)(q34;p13), del(12)(p13)[1] | ETV6 signal on derivative 9 | Type A and B |