Table 1. Characteristics of patients included in the study.
| PATIENTS | % BLASTS in BM | WHO-2016 | TIME FROM DIAGNOSIS TO ANALYSIS | IPSS-R | IPSS-R (Score) | CYTOGENETIC SCORE | MUTATIONAL PROFILE | TREATMENT |
|---|---|---|---|---|---|---|---|---|
| 1 | 7 | MDS EB-1 | <1 month | VHR | 6 | Very Poor | TP53, U2AF1, TET2 | Azacitidine |
| 2 | 12 | MSD EB-2 | <1 month | VHR | 6 | Very Poor | TP53 | Azacitidine |
| 3 | 11 | MDS EB-2 | 1.5 years | VHR | 7 | Intermediate | ND | Azacitidine |
| 4 | 12 | MSD EB-2 | 6.5 years | INT | 4,5 | Intermediate | RUNX1 | Azacitidine |
| 5 | 13 | MSD-EB-2 | <1 month | VHR | 8,5 | Very Poor | Not detected | Supportive care |
| 6 | 10 | MSD EB-2 | ND | ND | ND | ND | ASXL1, RUNX1, SRSF2, IDH1, TET2 | ND |
| 7 | 10 | MSD EB-2 | <1 month | VHR | 8,5 | Very Poor | TP53 | RIC-Allo-HSCT |
| 8 | 10 | MSD EB-2 | <1 month | INT | 3 | Intermediate | SF3B1, NPM1 | RIC-Allo-HSCT |
| 9 | 20 | sAML | 3 years | LR | 2 | Good | Not detected | Lenalidomide |
| 10 | 22 | sAML | 2 years | LR | 2 | Good | SF3B1 | RIC-Allo-HSCT |
| 11 | 34 | sAML | <1 month | ND | ND | Very Poor | TP53 | Azacitidine |
| 12 | 40 | sAML | 1 year | INT | 3 | Good | SF3B1, DNMT3A, TET2 | Azacitidine |
| 13 | 45 | sAML | 2 years | VHR | 6,5 | Intermediate | ASXL1, EZH2, ETV6, KRAS, PTPN11, ABL1 | Azacitidine |
| 14 | 30 | sAML | 1.5 years | HR | 5 | ND | TP53, U2AF1, NRAS | Azacitidine |
| 15 | 25 | sAML | ND | ND | ND | Good | RUNX1, U2AF1, BCOR, NRAS, FLT3-TKD | Azacitidine |
| 16 | 40 | sAML | ND | ND | ND | ND | RUNX1, EZH2, ASXL1, SF3B1, SETBP1 | Azacitidine |
| 17 | 57 | sAML | ND | ND | ND | ND | RUNX1, SF3B1, IDH2, DNMT3A | Azacitidine |
| 18 | 20 | sAML | ND | ND | ND | ND | TP53 | Azacitidine |
| 19 | 86 | sAML | ND | ND | ND | ND | RUNX1, EZH2, IDH2, CUX1, STAG2 | Azacitidine |
| 20a | 1 | CMML-0 | 1.5 years | VL | 1 | Good | ASXL1, SRSF2, TET2 | Supportive care |
| 21a | 2 | CMML-1 | 2 years | LR | 2 | Very Poor | TP53, KRAS | Azacitidine |
| 22 | 99 | De novo AML | 3 years | NA | NA | Good | NPM1, FLT3-TKD, WT1 | RIC-Allo-HSCT |
| 23 | 26 | De novo AML | <1 month | NA | NA | ND | Not detected | Chemotherapy |
| 24 | 70 | De novo AML | <1 month | NA | NA | ND | NPM1, PTPN11 | Chemotherapy |
| 25 | 56 | De novo AML | <1 month | NA | NA | ND | ZRSR2 | Chemotherapy |
| 26 | 70 | De novo AML | <1 month | NA | NA | Good | DNMT3A | Chemotherapy |
| 27 | 20 | De novo AML | <1 month | NA | NA | ND | TP53 | Chemotherapy |
Note: BM: Bone Marrow; MDS EB-1, -2: Myelodysplastic Syndrome with Excess of Blasts-1, -2; sAML: Acute Myeloid Leukemia secondary to MDS; CMML-0: Chronic Myelomonocytic Leukemia with <5% blasts in BM; CMML-1: Chronic Myelomonocytic Leukemia with 5-9% blasts in BM.
IPSS-R: Revised International Prognostic Scoring System; VHR: Very High Risk; HR: High Risk, INT: Intermediate, LR: Low Risk; VL: Very Low Risk.
NA: Not Applicable; ND: No Data.
RIC-Allo-HSCT: Reduced Intensity Conditioning Allogeneic Hematopoietic Stem Cell Transplantation.
In Mutational Profile, genes indicated in bold are High Molecular Risk (HMR) genes [7].
aPatient 20 and 21, DNA used in analysis was obtained from CD14+ monocytes (>40% monocytes in BM).