Table 1.
Clinical, cytogenetic, and NGS data from patients with AML withNUP98 translocation
| ID | Diagnosis (WHO 2016) | Age | Sex | Year | WBC, ×109/L | HB, g/L | PLT, × 109/L) | Blast % BM | Treatment | CR | Status | Karyotype | FISH | Breakpoint and fusion partner (NUP98::X) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | AML with myelodysplasia-related changes | 43 | M | 2016 | 15.2 | 69 | 50 | 18∗ | CETLAM AML-12 | Yes† | Alive | 46,XY[30] | 1R 1G 1Fus | 12::6 NSD1 |
| 2 | Acute myelomonocityc leukemia | 65 | M | 2017 | 32.4 | 55 | 55 | 35 | Quantumfirst TRIAL | Yes | Died in CR | 46,XY[20] | 1R 1Fus | 12::2 EMX1 |
| 3 | AML with myelodysplasia-related changes | 39 | M | 2020 | 285 | 71 | 29 | 86 | CETLAM AML-12 | No | Died in progression | 45,XY,add(1)(p36),del(1)(p15),? inv(14)(q11q32),der(17)t(17;22)(p11.2;p11.2),?inv(18)(q21.3q23),-22[20] | 1R 1G 1Fus | 12::6 NSD1 |
| 4 | AML with myelodysplasia-related changes | 49 | M | 2020 | 40.75 | 72 | 115 | 55 | CETLAM AML-12 | Yes‡ | Died in progression | 46,XY[20] | 1R 1G 1Fus | 12::6 NSD1 |
| 5 | Acute myelomonocityc leukemia | 52 | F | 2022 | 327 | 43 | 46 | 81 | HOVON 156 TRIAL | No | Died in progression | 46,XX[25] | 1R 2Fus | 12::6 NSD1 |
| 6 | AML with maturation | 31 | M | 2022 | 7.93 | 86 | 160 | 27 | CETLAM AML-12 | No | Died during induction (septicemia) | 46,XY,[inv(11)(p15q23)] | 1R 1G 1Fus | 14::2 KMT2A |
| 7 | AML with minimal differentiation | 33 | M | 2022 | 1.3 | 95 | 285 | 83 | VENAZA | Yes | Alive | 47,XY,inv(11)(q13.5q25),del(12)(p13),+21c[2] / 46,X,-Y,inv(11)(q13.5q25),del(12)(p13),+21c[18] | 1Fus 1R | 12::26 KDM5A |
| 8 | AML with myelodysplasia-related changes | 48 | M | 2022 | 238 | 73 | 47 | 70 | KB-LANRA-1001 Trial | Yes | Alive (relapsed after allo-sct) | 46,XY[30] | 1R 1G 1Fus | 12::6 NSD1 |
add, additional material of unknown origin; CR, complete remission; del, deletion; EMX1, Empty Spiracles Homeobox 1; F, female; Fus, fusion; G, green; HB, hemoglobin; inv, inversion; KDM5A, lysine demethylase 5A; KMT2A, lysine methyltransferase 2A; M, male; NSD1, nuclear receptor binding SET domain protein 1; PLT, platelet count; R, red; VENAZA, venetoclax plus azacitidine protocol; WBC, whole-blood cells.
∗
Peripheral blood 29%.
†
Relapsed before allogeneic stem cell transplant that was rescued.
‡
Relapsed before allogeneic stem cell transplant that could not be rescued.