Patient demographics
| Patient no. . | Sex . | Age at diagnosis, y . | Gene rearrangement . | Chromosome karyotyping . | Mutation analysis (VAF or allele ratio∗) . | Chemotherapy or conditioning regimen† . | Donor type (HLA matching, HLA-A, -B, -C, -DRB1, and -DQB1) . | Disease status at HSCT . | Relapse after HSCT/d . | F/U . | Outcome . | Cause of death . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P1 | M | 65 | NUP98::HMGB3 | 47,XY,inv(9)(p11q13),+21[20] | FLT3-ITD (0.18) | Dec | 1 y 2 mo | Death | Leukemia | |||
| P2 | M | 74 | NUP98::NSD1 | 47,XY,+8[17]/46,XY,del(5)(q22q35)[3] | FLT3-ITD (1.95) FLT3 (9.2%) DNMT3A (42.4%) | Dec, Aza + Ven | 2 mo | Death | Leukemia | |||
| P3 | F | 57 | NUP98::DDX10 | 46,XX,inv(11)(p15q22)[9]/46,XX[12] | None | Bu + Flu + ATG | MUD (10/10) | CR | No | 11 mo | Death | COVID-19 |
| P4 | F | 33 | NUP98::TOP1 | 46,XX,del(9)(q13q31),t(11;20)(p15;q11)[17]/46,idem,del(7)(q32)[3]/46,XX[2] | RAD21 (40.3%) | Bu + Cy + ATG | MUD (9/10) | CR | No | 3 y 10 mo | Alive | |
| P5 | M | 23 | NUP98::NSD1 | 46,XY[20] | FLT3-ITD (0.72) RUNX1 (46.7%) | Flu + Cy + TBI | Haplo | CR | No | 4 y 5 mo | Alive | |
| P6 | M | 34 | NUP98::NSD1 | 46,XY[20] | FLT3-ITD (0.75) | Bu + Cy + ATG | MUD (10/10) | CR | No | 4 y 3 mo | Alive | |
| P7 | F | 20 | NUP98::HOXA9 | 46,XX,t(7;11)(p15;p15)[20] | NRAS (15.3%) | Flu + Cy + TBI | Haplo | CR | Yes/1 y | 4 y 5 mo | Alive after 2nd HSCT | |
| P8 | F | 58 | NUP98::HOXC13 | 46,XX,t(11;12)(p15;q13)[20] | FLT3-ITD (0.26) PTPN11 (6.4%) NRAS (6.3%) | Bu + Flu + ATG | MUD (10/10) | CR | No | 2 y 4 mo | F/U lost | |
| P9 | M | 37 | NUP98::PHF23 | 46,XY,der(16)t(3;16)(q21;p13.1),del(17)(p11.2)[20] | TP53 (WGD) CREBBP (WGD) AXIN1 (WGD) NRAS (27.3%) NRAS (12.3%) | Bu + Cy + ATG | MUD (10/10) | CR | No | 1 y 5 mo | Alive | |
| P10 | F | 26 | NUP98::NSD1 | 46,XX,t(5;12)(q35;q24.1)?c[20] | FLT3-ITD (0.39) WT1 (46.5%) | Bu + Cy + ATG | MSD | CR | No | 2 y 7 mo | Alive |
| Patient no. . | Sex . | Age at diagnosis, y . | Gene rearrangement . | Chromosome karyotyping . | Mutation analysis (VAF or allele ratio∗) . | Chemotherapy or conditioning regimen† . | Donor type (HLA matching, HLA-A, -B, -C, -DRB1, and -DQB1) . | Disease status at HSCT . | Relapse after HSCT/d . | F/U . | Outcome . | Cause of death . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P1 | M | 65 | NUP98::HMGB3 | 47,XY,inv(9)(p11q13),+21[20] | FLT3-ITD (0.18) | Dec | 1 y 2 mo | Death | Leukemia | |||
| P2 | M | 74 | NUP98::NSD1 | 47,XY,+8[17]/46,XY,del(5)(q22q35)[3] | FLT3-ITD (1.95) FLT3 (9.2%) DNMT3A (42.4%) | Dec, Aza + Ven | 2 mo | Death | Leukemia | |||
| P3 | F | 57 | NUP98::DDX10 | 46,XX,inv(11)(p15q22)[9]/46,XX[12] | None | Bu + Flu + ATG | MUD (10/10) | CR | No | 11 mo | Death | COVID-19 |
| P4 | F | 33 | NUP98::TOP1 | 46,XX,del(9)(q13q31),t(11;20)(p15;q11)[17]/46,idem,del(7)(q32)[3]/46,XX[2] | RAD21 (40.3%) | Bu + Cy + ATG | MUD (9/10) | CR | No | 3 y 10 mo | Alive | |
| P5 | M | 23 | NUP98::NSD1 | 46,XY[20] | FLT3-ITD (0.72) RUNX1 (46.7%) | Flu + Cy + TBI | Haplo | CR | No | 4 y 5 mo | Alive | |
| P6 | M | 34 | NUP98::NSD1 | 46,XY[20] | FLT3-ITD (0.75) | Bu + Cy + ATG | MUD (10/10) | CR | No | 4 y 3 mo | Alive | |
| P7 | F | 20 | NUP98::HOXA9 | 46,XX,t(7;11)(p15;p15)[20] | NRAS (15.3%) | Flu + Cy + TBI | Haplo | CR | Yes/1 y | 4 y 5 mo | Alive after 2nd HSCT | |
| P8 | F | 58 | NUP98::HOXC13 | 46,XX,t(11;12)(p15;q13)[20] | FLT3-ITD (0.26) PTPN11 (6.4%) NRAS (6.3%) | Bu + Flu + ATG | MUD (10/10) | CR | No | 2 y 4 mo | F/U lost | |
| P9 | M | 37 | NUP98::PHF23 | 46,XY,der(16)t(3;16)(q21;p13.1),del(17)(p11.2)[20] | TP53 (WGD) CREBBP (WGD) AXIN1 (WGD) NRAS (27.3%) NRAS (12.3%) | Bu + Cy + ATG | MUD (10/10) | CR | No | 1 y 5 mo | Alive | |
| P10 | F | 26 | NUP98::NSD1 | 46,XX,t(5;12)(q35;q24.1)?c[20] | FLT3-ITD (0.39) WT1 (46.5%) | Bu + Cy + ATG | MSD | CR | No | 2 y 7 mo | Alive |
ATG, antithymocyte globulin; Aza, azacitidine; Bu, busulfan; Cy, cyclophosphamide; Dec, decitabine; F, female; F/U, follow-up; Flu, fludarabine; Haplo, haploidentical donor; M, male; MSD, matched sibling donor; MUD, matched unrelated donor; TBI, total body irradiation; VAF, variant allele frequency; Ven, venetoclax; WGD, whole-gene deletion.
VAF (%) was calculated from next-generation sequencing as a percentage by dividing the number of variant allele reads at each position by the total number of reads at that position. FLT3-ITD allele ratio was calculated from fragment analysis as the ratio of the mutant product's peak height to the wild-type product's peak height.
We presented chemotherapy regimens for individuals who had not undergone transplantation (P1 and P2) and conditioning regimens for the remaining patients who had undergone HSCT.