Page 40 - 2021_09-Haematologica-web
P. 40
E. Onecha et al.
B
the disease or at any other time during evaluation; further- more three of 23 cases presented with an altered karyotype at diagnosis. In the analysis of the samples of treatment refractoriness, we detected a median of one (range, 0–4) variant/sample in 20 samples evaluated, with three samples having no mutations. At CR, we detected a median of one (range, 0–4) variant/sample in 31 samples evaluated, with 11 samples having no mutations. At relapse, we detected a median of three (range, 0–11) variants/sample in 17 samples evaluated, one of which did not have a mutation (Online
Supplementary Figure S1).
Differences in genomic features between primary refrac-
toriness and relapse at diagnosis
Cases of primary refractoriness were associated with
high-risk cytogenetics (ELN-2010 criteria)22 (six of nine), whereas relapsed cases were related to intermediate-risk cytogenetics ELN-201022 (nine of 14, P=0.085). Also, the cases of primary refractoriness were associated with a lower number of variants at diagnosis (median 1.67) than leukemia relapses cases, with a median of 3.21 variants (P=0.029).
Figure 1B. Legend on following page.
2328
haematologica | 2021; 106(9)
