Gene rearrangements and gene mutations of 251 molecularly characterized E2993 patients (excluding 31 B-other patients)
| Molecular subgroup . | Gene rearrangements and mutations (no. of patients) . |
|---|---|
| DUX4-R | IGH-DUX4 (19), MZF1-DUX4 (1), DUX4 overexpression (2) |
| ETV6-RUNX1 | ETV6-RUNX1 (3) |
| ETV6-RUNX1-like | IKZF1-FIGNL1 (1), no fusion (1) |
| TCF3-PBX1 | TCF3-PBX1 (15) |
| TCF3-HLF | TCF3-HLF (1) |
| KMT2A-R | KMT2A-AFF1 (27), KMT2A-MLLT1 (5), KMT2A-EPS15 (2), KMT2A-MLLT3 (1), KMT2A-AFF1NEG by PCR (2) |
| Ph-like CRLF2-R | IGH-CRLF2 (19), P2RY8-CRLF2 (6), IGH-CRLF2 + P2RY8-CRLF2 (1), USP9X-RBM10 (1), high CRLF2 expression and Ph-like score (2), NA (1) |
| Ph-like non-CRLF2-R | PAX5-JAK2 (2), SSBP2-JAK2 (2), PCM1-JAK2 (1), ZNF340-JAK2 (1), ZNF340-TYK2 (1), RCSD1-ABL1 (1), RCSD1-ABL2 (1), ETV6-NTRK3 (1), IGH-EPOR (1), IGK-EPOR (1), FIP1L1-PDGFRA (1), IL7R p.L242ins (1), no fusion (4) |
| PAX5alt | PAX5-ETV6 (4), PAX5-ZNF318 (1), IGH-CRLF2 (1), P2RY8-CRLF2 (1), PAX5 G334fs (1), PAX5 R140L (1), PAX5 R59W (1), no fusion or mutation (17) |
| PAX5 P80R | P2RY8-CRLF2 (1), PAX5 p.Pro80Arg (9) |
| ZNF384-R | EP300-ZNF384 (6), TCF3-ZNF384 (2), TAF15-ZNF384 (1) |
| ZNF384-like | ZBT47-ZNF652 (1), no fusion (1) |
| MEF2D-R | MEF2D-BCL9 (5), MEF2D-SS18 (1) |
| BCL2/MYC | IGH-MYC (3), IGH-BCL2 (2), IGH-BCL2 + BACH2-MYC (1), REPS1-BCL2 (1), IGH-BCL2 + IGH-MYC (2), SMC4-BCL6 (1), IGH-BCL2 + MBNL1-BCL6 (1), IGH-BCL6 (1), |
| ZEB2/CEBPE | IGH-CEBPE (3), no fusion (1) |
| iAMP21 | IGH-CRLF2 (1), no fusion (2) |
| HH | No fusion (9), NA (7) |
| LH/NH | CREBBP-UTRN (1), TFAP4-TRAP1 (1), PAX5 R140L (1), no fusion (29), NA (3) |
| Molecular subgroup . | Gene rearrangements and mutations (no. of patients) . |
|---|---|
| DUX4-R | IGH-DUX4 (19), MZF1-DUX4 (1), DUX4 overexpression (2) |
| ETV6-RUNX1 | ETV6-RUNX1 (3) |
| ETV6-RUNX1-like | IKZF1-FIGNL1 (1), no fusion (1) |
| TCF3-PBX1 | TCF3-PBX1 (15) |
| TCF3-HLF | TCF3-HLF (1) |
| KMT2A-R | KMT2A-AFF1 (27), KMT2A-MLLT1 (5), KMT2A-EPS15 (2), KMT2A-MLLT3 (1), KMT2A-AFF1NEG by PCR (2) |
| Ph-like CRLF2-R | IGH-CRLF2 (19), P2RY8-CRLF2 (6), IGH-CRLF2 + P2RY8-CRLF2 (1), USP9X-RBM10 (1), high CRLF2 expression and Ph-like score (2), NA (1) |
| Ph-like non-CRLF2-R | PAX5-JAK2 (2), SSBP2-JAK2 (2), PCM1-JAK2 (1), ZNF340-JAK2 (1), ZNF340-TYK2 (1), RCSD1-ABL1 (1), RCSD1-ABL2 (1), ETV6-NTRK3 (1), IGH-EPOR (1), IGK-EPOR (1), FIP1L1-PDGFRA (1), IL7R p.L242ins (1), no fusion (4) |
| PAX5alt | PAX5-ETV6 (4), PAX5-ZNF318 (1), IGH-CRLF2 (1), P2RY8-CRLF2 (1), PAX5 G334fs (1), PAX5 R140L (1), PAX5 R59W (1), no fusion or mutation (17) |
| PAX5 P80R | P2RY8-CRLF2 (1), PAX5 p.Pro80Arg (9) |
| ZNF384-R | EP300-ZNF384 (6), TCF3-ZNF384 (2), TAF15-ZNF384 (1) |
| ZNF384-like | ZBT47-ZNF652 (1), no fusion (1) |
| MEF2D-R | MEF2D-BCL9 (5), MEF2D-SS18 (1) |
| BCL2/MYC | IGH-MYC (3), IGH-BCL2 (2), IGH-BCL2 + BACH2-MYC (1), REPS1-BCL2 (1), IGH-BCL2 + IGH-MYC (2), SMC4-BCL6 (1), IGH-BCL2 + MBNL1-BCL6 (1), IGH-BCL6 (1), |
| ZEB2/CEBPE | IGH-CEBPE (3), no fusion (1) |
| iAMP21 | IGH-CRLF2 (1), no fusion (2) |
| HH | No fusion (9), NA (7) |
| LH/NH | CREBBP-UTRN (1), TFAP4-TRAP1 (1), PAX5 R140L (1), no fusion (29), NA (3) |
No fusion, inability to detect a fusion with the methodology used.
NA, RNA-seq was not performed.