Table 1.
Clinico-pathological characteristics and sample specifications in terms of risk factors, treatment, and prognosis.
| Category | MDS | sAML | Controls | |
|---|---|---|---|---|
| Number of samples | 69 | 33 | 45 | |
| Age | 68.2 (42–86) | 68.9 (47–82) | 59.6 (39–84) | |
| Sex | male | 39 | 18 | 24 |
| female | 30 | 15 | 21 | |
| Leukocyte count in peripheral blood (×109/L) | 4.5 (0.8–46.2) | 5.6 (0.1–30.0) | 8.1 (3.8–9.7) | |
| Patients with (auto)immune disorders | 10 | 2 | 0 | |
| Autoimmune thyroiditis (Hashimoto thyroiditis, Graves’ disease) | 5 | 1 | - | |
| autoimmune cholangitis | 1 | - | - | |
| rheumatoid arthritis | 3 | - | - | |
| Myasthenia gravis | 1 | 1 | - | |
| MDS | MDS-SLD, MDS-RS-SLD, MDS-MLD, MDS-RS-MLD | 22 | - | - |
| MDS-EB1 | 26 | - | - | |
| MDS-EB2 | 21 | - | - | |
| CCSS | 1—loss of Y chromosome, del(11q) | 7 | 2 | - |
| 2—normal karyotype, del(5q), del(12p), del(20q) | 27 | 5 | - | |
| 3—del(7q), gain of chromosome 8 and 19, isochromosome 17q | 17 | 10 | - | |
| 4—gain of chromosome 3 and 7, complex (>2) | 1 | 7 | - | |
| 5—complex (>3) | 17 | 9 | - | |
| IPSS-R | 1—very low risk | 2 | - | - |
| 2—low risk | 6 | - | - | |
| 3—intermediate risk | 20 | - | - | |
| 4—high risk | 26 | - | - | |
| 5—very high risk | 15 | - | - | |
| Treatment | patients without specified treatment prior to BMB extraction | 35 of 69 | - | - |
| HMA treatment prior to BMB extraction | 17 of 69 | 6 of 33 | - | |
| ASCT treatment following BMB extraction | 23 of 69 | 9 of 33 | - | |
| MDS patients with progress to sAML in the course of the disease (regardless treatment) | 18 of 69 | - | - | |
| untreated MDS patients with progress to sAML in the course of the disease (without prior HMA treatment and without ASCT in the course of the disease) | 6 of 35 | - | - | |
MDS patients were categorized into different MDS subtypes as follows: MDS without excess of blasts (encompassing MDS with single lineage dysplasia (MDS-SLD), MDS with ring sideroblasts and single lineage dysplasia (MDS-RS-SLD), MDS with multi-lineage dysplasia (MDS-MLD), MDS with ring sideroblasts and multi-lineage dysplasia (MDS-RS-MLD)), MDS with excess of blasts 1 (MDS-EB1), and MDS with excess of blasts 2 (MDS-EB2). Cytogenetic aberrations were classified according to the Comprehensive Cytogenetic Scoring System (CCSS), while risk factors were classified according to the Revised International Prognostic Scoring System (IPSS-R). Treatment with hypomethylating agents (HMA) prior to BMB extraction and allogeneic stem cell transplantation (ASCT) treatment following BMB extraction are separately marked.