Table 1 Correlation of fluorescence in situ hybridization and whole-genome sequencing results at the MYC locus in 14 patients with DLBCL/HGBL.
Case | Group | FISH nomenclature | WGS result summary | Breakpoint relative to MYC | Breakpoint relative to partner gene | MYC overexpression by IHC |
|---|---|---|---|---|---|---|
1 | RF | nuc ish(5’MYCx3,3′MYCx2)(5’MYC con 3′MYCx2)[42/100]/(MYCx3)[30/100] | MYC::TG (deletion within copy gain of chr8 leading to this juxtaposition event) | Intergenic, telomeric to MYC | Intergenic, centromeric to TG (break within KCNQ3) | Yes |
2 | RF | nuc ish(5′MYCx2,3′MYCx1)(5′MYC con 3′MYCx1)[100] | MYC::TG | Intergenic, telomeric to MYC, centromeric to PVT1 | TG, intron 26 (NM_003235.5) | Yes |
3 | RF | nuc ish,(5′MYCx2 ~ 3,3′MYCx1-2)(5′MYC con 3′MYCx1-2)[97/100] | MYC::IRF8 | Intergenic, telomeric to MYC and PVT1 | IRF8, intron 2 (NM_002163.4) | Yes |
4 | RF | nuc ish(5′MYCx2 ~ 3,3′MYCx1-2)(5′MYC con 3′MYCx1-2)[61/100] | MYC::SPAG1 Templated insertion of MYC telomeric to ADAM7 2. MYC::ADAM28 | 1. Intergenic, telomeric to MYC and PVT1 2. Intergenic, centromeric to MYC | 1. SPAG1, intron 10, (NM_003114.5) 2. ADAM28/ADAM7 | No |
5 | RF | nuc ish(5’MYCx2 ~ 5,3’MYCx1 ~ 2)(5’MYC con 3’MYCx1∼2)[100] | Relative gain of MYC, break in PVT1 | Telomeric to MYC, PVT1, intron 1 (NR_003367.3) | NA | Yes |
6 | GF | nuc ish(5’MYCx1 ~ 3,3’MYCx2 ~ 4)(5’MYC con 3’MYCx1∼3)[80/100] | MYC::ACTB (fusion predicted) | Genic, MYC intron 1 | ACTB, Intron 2 (NM_001101.5) | Yes |
7 | GF | nuc ish(5’MYCx1,3’MYCx2)(5’MYC con 3’MYCx1)[68/100] | Relative copy number loss including MYC in the setting of copy number gain of chr8q | NA | NA | Yes |
8 | RGF | nuc ish(5′MYCx2 ~ 4,3′MYCx2 ~ 4)(5′MYC sep 3′MYCx1)[90/100] | MYC::IGH (with trisomy 8) | Genic, MYC intron 1 | Intergenic, centromeric to IGHE | Yes |
9 | RGF | nuc ish(5′MYC,3′MYC)x2∼4(5′MYC con 3′MYCx1 ~ 2)[93/100] | MYC::RFTN1 fusion predicted (with trisomy 8) | Genic, MYC exon 3 (NM_002467)) | Intron 2 of RFTN1 (NM_015150) | Yes |
10 | RGF | nuc ish(5′MYCx2 ~ 5,3′MYCx2 ~ 5)(5′MYC con 3′MYCx1 ~ 2)[100] | 1. MYC::DMD 2. CASC8::PTCHD1 3. CASC8::DMD 4. MYC::DMD | 1. Genic, MYC 3′UTR 2. Upstream of MYC, CASC8 intron 4 (NR_117100) 3. Upstream of MYC, CASC8 intron 4 4. Intergenic, telomeric to MYC | 1. DMD, intron 1, (NM_000109) 2. Intergenic, centromeric/upstream of PTCHD1 (NM_173495) 3. DMD, intron 1 (NM_00109) 4. DMD, intron 1 (NM_00109) | Yes |
11 | RGF | nuc ish(MYCx2)(5′MYC sep 3′MYCx1)[96/100] | MYC::ZCCHC7 fusion predicted | Intergenic, Breakpoint centromeric to MYC | Intron 2 of ZCCHC7 (NM_032226) | Yes |
12 | RGF | nuc ish(MYCx2)(5′MYC sep 3′MYCx1)[92/100] | MYC::IGLL5 fusion (2 rearrangements) | 1. Intergenic, telomeric to MYC, upstream of PVT1 2. Intergenic, telomeric to MYC and PVT1 | 1. IGLL5, intron 1 (NM_001178126) 2. IGLL5, intron 1 | Yes |
13 | RGF | nuc ish(MYCx2)(5′MYC sep 3′MYCx1)[94/100] | MYC::IGL | Telomeric to MYC, PVT1 intron 1 (NR_003367.3) and deletion of PVT1 (complex event) | Intergenic, downstream of (telomeric) IGLL5 | Yes |
14 | RGF | nuc ish(MYCx2)(5′MYC sep 3′MYCx1)[100] | MYC::BCL11A | 1. Intergenic, telomeric/downstream of MYC and PVT1 | BCL11A intron 1 (NM_022893.4) | Yes |
