Table 3 Clinical and molecular patient characteristics
Patient | Age | Gender | Disease | Counts | Treatment status | Cytogenetics | (Standard) molecular tests | Targeted sequencing | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
WBC | % Blasts | Hb (g/dL) | Platelets | CG | FISH | |||||||
MDS#1 | 75 | M | MDS/MPN | 100 | 0–1 | 10–11 | 15 | Naïve (except prior HU) | 46 xy | Not done | JAK2 pos. MPL neg. | Not done |
AMML#2 | 65 | M | CMML->AMML | 6 | 17–21 | 8.8 | 107 | Naïve | 46 xy | Normal | JAK/MPL/BCR-ABL all neg. | Not done |
MDS#3a | 65 | M | RCMD/RAEB-1 | 1.7 | 4 | 7–8 | 56 | Lenalidomide, azacitidine decitabine (off >4 months) | del(5) (q13q33), del(20) (q11.2q13.3) | 5q-(85 %), del20q (64 %) | None | NF1, TET2, RUNX1, BCOR, EZH2, SF3B1 |
AML#2a | 65 | M | MDS->AML | 2.1 | 52 | 8.4 | 25 | Lenalidomide, azacitidine decitabine (off >8 months at AML progression) | del(5) (q13q33), del(20) (q11.2q13.3) | 5q-(85 %), 20q- (11.5 %) | None | NF1, TET2, RUNX1, BCOR, EZH2, SF3B1 |
MDS#4 | 70 | M | RCMD | 1.7 | 1 | 11.3 | 80 | 2-CDA for HCL 8 years prior | del 20q (q11.2q13.3) | 20q- (38.5 %) +8 (7.5 %) | Not done | Not done |
MDS#5 | 73 | M | MDS->AML | 0.8 | 5 | 9.7 | 11 | Progressed after CR azacitidine, minimal/no response to decitabine | 46 xy | Normal | FLT3 neg. | NRAS, NF-1, MLL-PTD, DNMT3A, BCOR, U2AF1 |
MDS#6 | 73 | M | RAEB-2->AML | 2.7 | 12 | 10.3 | 11 | No response to oral azacitidine | 46 xy | Normal | FLT3 neg. NPM1 neg. | No mutation detected |
MDS#7 | 77 | M | RCMD | 12.5 | 1 | 435 | 435 | 2-CDA for MM 3 years prior | Complex [del1p, 5q22del translocation 6; 7, +8] | 5q- (28.5 %) +8 (20.5 %) +3q21, +3q26.2 (both 54 %) | Not done | Not done |
AML#1 | 72 | M | AML (de novo) | – | – | – | – | Naïve | del(9) (q13q22) -y | Normal | FLT neg. NPM pos. | Not done |
CMML#1 | 84 | F | CMML-1 | 20 | 1 | 9 | 169 | Azacitidine + SAHA (off 4 months) | 46 xx | Normal | None | TET2, NRAS, MLL-PTD, RUNX1, ASXL1, EZH2, WT1 |