TY - JOUR AU - Kayser, Sabine AU - Martínez-Cuadrón, David AU - Hanoun, Maher AU - Stölzel, Friedrich AU - Gil, Cristina AU - Reinhardt, H. Christian AU - Aguiar, Eliana AU - Schäfer-Eckart, Kerstin AU - Burgues, Juan Miguel Bergua AU - Steffen, Björn AU - Bernal, Teresa AU - Krause, Stefan W. AU - Riaza, Rosalía AU - Schliemann, Christoph AU - Cervera, Jose AU - Kaufmann, Martin AU - Torres-Miñana, Laura AU - Hänel, Mathias AU - Acuña-Cruz, Evelyn AU - Jost, Edgar AU - Algarra, Jesus Lorenzo AU - Crysandt, Martina AU - Fransecky, Lars AU - Cornago-Navascues, Javier AU - Kraus, Sabrina AU - Martinez-Lopez, Joaquin AU - Einsele, Hermann AU - Niemann, Dirk AU - Neubauer, Andreas AU - Seggewiß-Bernhardt, Ruth AU - Scholl, Sebastian AU - Klein, Stefan A. AU - Schmid, Christoph AU - Schaich, Markus AU - Schmidt-Hieber, Martin AU - Zukunft, Sven AU - Ho, Anthony D. AU - Platzbecker, Uwe AU - Baldus, Claudia D. AU - Müller-Tidow, Carsten AU - Thiede, Christian AU - Bornhäuser, Martin AU - Serve, Hubert AU - Levis, Mark AU - Montesinos, Pau AU - Röllig, Christoph AU - Schlenk, Richard F. PY - 2023/01/01 Y2 - 2024/03/28 TI - Characteristics and outcome of patients with acute myeloid leukemia and trisomy 4 JF - Haematologica JA - haematol VL - 108 IS - 1 SE - Articles DO - 10.3324/haematol.2022.281137 UR - https://haematologica.org/article/view/haematol.2022.281137 SP - 34-41 AB - 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. ER -