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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)

From: A novel three-way rearrangement involving ETV6 (12p13) and ABL1 (9q34) with an unknown partner on 3p25 resulting in a possible ETV6-ABL1 fusion in a patient with acute myeloid leukemia: a case report and a review of the literature

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
  1. Age/sex of patient, karyotype, salient FISH findings, and type of ETV6-ABL1 fusion transcript detected are provided