Recurrent coalterations with NUP98 gene fusions
| Coalteration . | Estimated frequency . | Notes . |
|---|---|---|
| FLT3-ITD mutation | 48%-92% NUP98-NSD131,34,59,60,70 7%-27% NUP98-HOXA965,66 | Repeatedly observed in AML with many NUP98 fusion partners (rarely including NUP98-KDM5A3,31,58,62 ); predicts poor prognosis when observed with NUP98-NSD1 fusion and/or WT1 mutation32,34,60,70,129 ; association may be lost following treatment failure71 |
| WT1 mutation | 33%-55% NUP98-NSD159,60,131 44% NUP98-HOXA966 | Observed in AML with various fusion partners3,31,32,34,59,60,66,71,129-131,163,164 ; predicts poor prognosis with NUP98-NSD1 fusion and/or FLT3-ITD mutation32,34,129 |
| NRAS mutation | 11%-29% NUP98-NSD159,60,131 22% NUP98-HOXA966 | Observed in AML with various fusion partners3,33,34,59,60,66,129,130 |
| KRAS mutation | 11%-17% NUP98-NSD159,60 22% NUP98-HOXA966 | Occurs with NUP98-HOXA9,66,129 -KDM5A,54 and -NSD133,59,60 |
| RB1 loss | 80%-100% NUP98-KDM5A3,62 | Observed in almost all NUP98-KDM5A cases3,62,125 ; not identified with other NUP98 fusion partners |
| BCR-ABL fusion | NUP98 fusion may drive CML transition into blast crisis or mediate resistance to imatinib25,165 ; not identified with NUP98-KDM5A or NUP98-NSD1 | |
| CEPBA mutation | Fairly infrequent with NUP98 fusion; generally only observed with NUP98 fusion as well as FLT3-ITD or WT1 mutation31,34 | |
| NOTCH1 mutation | Only identified in T-ALL with NUP98 fusion,123 including in some mouse models85,124 | |
| MYC mutation | Noted in NUP98-NSD1 cases; relatively infrequent71,131 | |
| KIT mutation | Identified with both NUP98-HOXA9 and NUP98-NSD1 fusions59,129 | |
| ASXL1 mutation | Likely results in epigenetic dysregulation, identified in few patients with NUP98 fusion62,166 | |
| Trisomy 8 | Observed in multiple cases with various fusion partners despite that NUP98 fusion is often noted as the only chromosomal rearrangement, especially in older patients25,31,34,65,166,167 |
| Coalteration . | Estimated frequency . | Notes . |
|---|---|---|
| FLT3-ITD mutation | 48%-92% NUP98-NSD131,34,59,60,70 7%-27% NUP98-HOXA965,66 | Repeatedly observed in AML with many NUP98 fusion partners (rarely including NUP98-KDM5A3,31,58,62 ); predicts poor prognosis when observed with NUP98-NSD1 fusion and/or WT1 mutation32,34,60,70,129 ; association may be lost following treatment failure71 |
| WT1 mutation | 33%-55% NUP98-NSD159,60,131 44% NUP98-HOXA966 | Observed in AML with various fusion partners3,31,32,34,59,60,66,71,129-131,163,164 ; predicts poor prognosis with NUP98-NSD1 fusion and/or FLT3-ITD mutation32,34,129 |
| NRAS mutation | 11%-29% NUP98-NSD159,60,131 22% NUP98-HOXA966 | Observed in AML with various fusion partners3,33,34,59,60,66,129,130 |
| KRAS mutation | 11%-17% NUP98-NSD159,60 22% NUP98-HOXA966 | Occurs with NUP98-HOXA9,66,129 -KDM5A,54 and -NSD133,59,60 |
| RB1 loss | 80%-100% NUP98-KDM5A3,62 | Observed in almost all NUP98-KDM5A cases3,62,125 ; not identified with other NUP98 fusion partners |
| BCR-ABL fusion | NUP98 fusion may drive CML transition into blast crisis or mediate resistance to imatinib25,165 ; not identified with NUP98-KDM5A or NUP98-NSD1 | |
| CEPBA mutation | Fairly infrequent with NUP98 fusion; generally only observed with NUP98 fusion as well as FLT3-ITD or WT1 mutation31,34 | |
| NOTCH1 mutation | Only identified in T-ALL with NUP98 fusion,123 including in some mouse models85,124 | |
| MYC mutation | Noted in NUP98-NSD1 cases; relatively infrequent71,131 | |
| KIT mutation | Identified with both NUP98-HOXA9 and NUP98-NSD1 fusions59,129 | |
| ASXL1 mutation | Likely results in epigenetic dysregulation, identified in few patients with NUP98 fusion62,166 | |
| Trisomy 8 | Observed in multiple cases with various fusion partners despite that NUP98 fusion is often noted as the only chromosomal rearrangement, especially in older patients25,31,34,65,166,167 |
For the most common coalterations, estimated frequencies were determined from available studies with >5 patients.