Characteristics and outcome of patients with acute myeloid leukemia and trisomy 4

Kayser S, Martínez-Cuadrón D, Hanoun M, Stölzel F, Gil C, Reinhardt HC, Aguiar E, Schäfer-Eckart K, Burgues JMB, Steffen B, Bernal T, Krause S, Riaza R, Schliemann C, Cervera J, Kaufmann M, Torres-Miñana L, Hänel M, Acuña-Cruz E, Jost E, Algarra JL, Crysandt M, Fransecky L, Cornago-Navascues J, Kraus S, Martinez-Lopez J, Einsele H, Niemann D, Neubauer A, Seggewiss-Bernhardt R, Scholl S, Klein SA, Schmid C, Schaich M, Schmidt-Hieber M, Zukunft S, Ho AD, Platzbecker U, Baldus CD, Müller-Tidow C, Thiede C, Bornhäuser M, Serve H, Levis MJ, Montesinos P, Röllig C, Schlenk RF (2023)

Publication Type: Journal article

Publication year: 2023


Book Volume: 108

Pages Range: 34-41

Journal Issue: 1

DOI: 10.3324/haematol.2022.281137


We retrospectively studied 125 patients with acute myeloid leukemia and trisomy 4 (median age at diagnosis, 58 years; range, 16-77 years) treated between 2000 and 2019 within a multicenter study. Trisomy 4 was the sole abnormality in 28 (22%) patients and additional abnormalities were present in 97 (78%) patients. Twenty-two (22%) and 15 (15%) of 101 tested patients harbored NPM1 and FLT3-ITD mutations. Two (3%) of 72 tested patients had double CEBPA mutations. Data on response to intensive anthracycline-based induction therapy were available for 119 patients. Complete remission was achieved in 67% (n=80) and the early death rate was 5% (n=6). Notably, patients with trisomy 4 as sole abnormality had a complete remission rate of 89%. Allogeneic hematopoietic cell transplantation was performed in 40 (34%) patients, of whom 19 were transplanted in first complete remission. The median follow-up of the intensively treated cohort was 5.76 years (95% confidence interval [95% CI]: 2.99-7.61 years). The 5-year overall survival and relapse-free survival rates were 30% (95% CI: 22-41%) and 27% (95% CI: 18-41%), respectively. An Andersen-Gill regression model on overall survival revealed that favorable-risk according to the European LeukemiaNet classification (hazard ratio [HR]=0.34; P=0.006) and trisomy 4 as sole abnormality (HR=0.41; P=0.01) were favorable factors, whereas age with a difference of 10 years (HR=1.15; P=0.11), female gender (HR=0.74; P=0.20) and allogeneic hematopoietic cell transplantation (HR=0.64; P=0.14) did not have an significant impact. In our cohort, patients with trisomy 4 as their sole abnormality had a high complete remission rate and favorable clinical outcome. Allogeneic hematopoietic cell transplantation did not seem to improve overall survival.

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Kayser, S., Martínez-Cuadrón, D., Hanoun, M., Stölzel, F., Gil, C., Reinhardt, H.C.,... Schlenk, R.F. (2023). Characteristics and outcome of patients with acute myeloid leukemia and trisomy 4. Haematologica, 108(1), 34-41.


Kayser, Sabine, et al. "Characteristics and outcome of patients with acute myeloid leukemia and trisomy 4." Haematologica 108.1 (2023): 34-41.

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