Recurrent chromosomal abnormalities and their frequencies in myelodysplastic syndrome (MDS) at diagnosis [5, 14].
| Chromosomal abnormality | Frequency | Prognosisb) | |
|---|---|---|---|
| MDS overall | Therapy-related MDS | ||
| Unbalanced | |||
| Gain of chromosome 8a) | 10% | Intermediate | |
| Loss of chromosome 7 or del(7q) | 10% | 50% | Intermediate |
| del(5q) | 10% | 40% | Good |
| del(20q)a) | 5–8% | Good | |
| Loss of Y chromosomea) | 5% | Very good | |
| Isochromosome 17q or del(17p) | 3–5% | 25–30% | Intermediate |
| Loss of chromosome 13 or del(13q) | 3% | Intermediate | |
| del(11q) | 3% | Very good | |
| del(12p) or t(12p) | 3% | Good | |
| del(9q) | 1–2% | Intermediate | |
| idic(X)(q13) | 1–2% | Intermediate | |
| Balanced | |||
| t(11;16)(q23.3;p13.3) | 3% | Intermediate | |
| t(3;21)(q26.2;q22.1) | 2% | Poor | |
| t(1;3)(p36.3;q21.2) | 1% | Poor | |
| t(2;11)(p21;q23.3) | 1% | Intermediate | |
| inv(3)(q21.3q26.2)/t(3;3)(q21.3;q26.2) | 1% | Poor | |
| t(6;9)(p23;q34.1) | 1% | Intermediate | |
a)As a sole cytogenetic abnormality in the absence of morphological criteria, gain of chromosome 8, del(20q) and loss of Y chromosome are not considered definitive evidence of MDS; in the setting of persistent cytopenia of undetermined origin, the other abnormalities shown in this table are considered as presumptive evidence of MDS, even in the absence of definitive morphological features. b)Normal karyotype: Good; Double including del(5q): Good; Double including -7/del(7q): Poor; Any other double: Intermediate; Complex karyotype (3 abnormalities): Poor; Complex karyotype (>3 abnormalities): Very poor.
Blood Res 2021;56:S51~S64 https://doi.org/10.5045/br.2021.2021010
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