Review of published cases with t(4;12)(q12;p13) involving ETV6 that used FISH and/or sequencing to confirm 4q12 rearrangement
| Study . | Eosinophilia . | Diagnosis and FAB classification (cases, n) . | FISH method used to confirm 4q12 rearrangement . | 4q12 Partner gene identified by sequencing . | Imatinib response (treatment duration) . |
|---|---|---|---|---|---|
| Curtis et al, 200727 | Yes | CEL (1) | Roswell Park BAC clone RP11-24O10 targeting 4q12 | PDGFRA | Complete resolution by 4 wk |
| Yoshida et al, 201528 | Yes | CEL (1) | SureFISH probes G100506G and G100152R (Agilent Technologies) | PDGFRA | Unresponsive, transformed to AML (5 mo) |
| Ranjbaran et al, 202129 | Yes | Hypereosinophilia (1) | NR | PDGFRA | NR |
| Pozdnyakova et al, 202130 | Yes | Myeloid neoplasm with eosinophilia (1) | Vysis 4q12 Tri-Color Rearrangement FISH Probe Kit (Abbott) | NR | NR |
| Cools et al, 199926 | No | AML-M0 (3), myeloid/NK cell leukemia (1) | Laboratory-developed PAC targeting CHIC2 locus | CHIC2 | NR |
| Hamaguchi et al, 199963 ,* | No | AML-M0 (1) | Whole-chromosome painting with laboratory-developed plasmid library | NR | NR |
| Odero et al, 200164 | No | AML-M0 (1), AML-M2 (1) | Laboratory-developed PAC targeting CHIC2 locus | NR | NR |
| Cools et al, 200253 | No | AML, classification NR (2) | Laboratory-developed PAC targeting CHIC2 locus | CHIC2, GSX2(ap) | NR |
| Kuchenbauer et al, 200551 | No | AML-M1 (1) | NR | CHIC2 | NR |
| Silva et al, 200836 | No | AML-M0 (2) | Roswell Park BAC clone RP11-367N1 targeting 4q12 | CHIC2 | NR |
| Heaton et al, 201265 | No | AML-M5 (1) | Vysis 4q12 Tri-Color Rearrangement FISH Probe Kit (Abbott) | NR | NR |
| Di Giacomo et al, 201525 | No | AML-M0 (1) | Vysis 4q12 Tri-Color Rearrangement FISH Probe Kit (Abbott) and laboratory-developed BACs | GSX2 | NR |
| Abe et al, 201652 | No | AML, classification NR (1) | NR | CHIC2 | NR |
| Kim et al, 201666 | No | AML-MRC (1), AML-M2 (1) | Vysis 4q12 Tri-Color Rearrangement FISH Probe Kit (Abbott) | NR | NR |
| Koduru et al, 201631 ,* | No | AML-MRC (1) | Vysis 4q12 Tri-Color Rearrangement FISH Probe Kit (Abbott) | NR | Unresponsive (1 wk) |
| Li et al, 201824 | No | AML-MRC (6), AML-M0 (2), AML-M1 (4), AML-M4 (1), AML-M6 (1), classification NR (1) | Vysis 4q12 Tri-Color Rearrangement FISH Probe Kit (Abbott) | NR | NR |
| Zhang et al, 202038 | No | MPN-U (1) | NR | LINC02260 | NR |
| Study . | Eosinophilia . | Diagnosis and FAB classification (cases, n) . | FISH method used to confirm 4q12 rearrangement . | 4q12 Partner gene identified by sequencing . | Imatinib response (treatment duration) . |
|---|---|---|---|---|---|
| Curtis et al, 200727 | Yes | CEL (1) | Roswell Park BAC clone RP11-24O10 targeting 4q12 | PDGFRA | Complete resolution by 4 wk |
| Yoshida et al, 201528 | Yes | CEL (1) | SureFISH probes G100506G and G100152R (Agilent Technologies) | PDGFRA | Unresponsive, transformed to AML (5 mo) |
| Ranjbaran et al, 202129 | Yes | Hypereosinophilia (1) | NR | PDGFRA | NR |
| Pozdnyakova et al, 202130 | Yes | Myeloid neoplasm with eosinophilia (1) | Vysis 4q12 Tri-Color Rearrangement FISH Probe Kit (Abbott) | NR | NR |
| Cools et al, 199926 | No | AML-M0 (3), myeloid/NK cell leukemia (1) | Laboratory-developed PAC targeting CHIC2 locus | CHIC2 | NR |
| Hamaguchi et al, 199963 ,* | No | AML-M0 (1) | Whole-chromosome painting with laboratory-developed plasmid library | NR | NR |
| Odero et al, 200164 | No | AML-M0 (1), AML-M2 (1) | Laboratory-developed PAC targeting CHIC2 locus | NR | NR |
| Cools et al, 200253 | No | AML, classification NR (2) | Laboratory-developed PAC targeting CHIC2 locus | CHIC2, GSX2(ap) | NR |
| Kuchenbauer et al, 200551 | No | AML-M1 (1) | NR | CHIC2 | NR |
| Silva et al, 200836 | No | AML-M0 (2) | Roswell Park BAC clone RP11-367N1 targeting 4q12 | CHIC2 | NR |
| Heaton et al, 201265 | No | AML-M5 (1) | Vysis 4q12 Tri-Color Rearrangement FISH Probe Kit (Abbott) | NR | NR |
| Di Giacomo et al, 201525 | No | AML-M0 (1) | Vysis 4q12 Tri-Color Rearrangement FISH Probe Kit (Abbott) and laboratory-developed BACs | GSX2 | NR |
| Abe et al, 201652 | No | AML, classification NR (1) | NR | CHIC2 | NR |
| Kim et al, 201666 | No | AML-MRC (1), AML-M2 (1) | Vysis 4q12 Tri-Color Rearrangement FISH Probe Kit (Abbott) | NR | NR |
| Koduru et al, 201631 ,* | No | AML-MRC (1) | Vysis 4q12 Tri-Color Rearrangement FISH Probe Kit (Abbott) | NR | Unresponsive (1 wk) |
| Li et al, 201824 | No | AML-MRC (6), AML-M0 (2), AML-M1 (4), AML-M4 (1), AML-M6 (1), classification NR (1) | Vysis 4q12 Tri-Color Rearrangement FISH Probe Kit (Abbott) | NR | NR |
| Zhang et al, 202038 | No | MPN-U (1) | NR | LINC02260 | NR |
AML-M1, AML with minimal maturation; AML-M2, AML with maturation; AML-M4, acute myelomonocytic leukemia; AML-M5, acute monocytic leukemia; AML-M6, acute erythroid leukemia; AML-MRC, AML with myelodysplasia-related changes; ap, antiparallel; BAC, bacterial artificial chromosome; FAB, French-American-British classification system; MPN-U, myeloproliferative neoplasm, unclassifiable; NK, natural killer cell; NR, not reported; PAC, P1-derived artificial chromosome.
Three-way rearrangements involving 4q12 and 12p13 translocation.