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

Sabine Kayser, David Martínez-Cuadrón, Maher Hanoun, Friedrich Stölzel, Cristina Gil, H. Christian Reinhardt, Eliana Aguiar, Kerstin Schäfer-Eckart, Juan Miguel Bergua Burgues, Björn Steffen, Teresa Bernal, Stefan W. Krause, Rosalía Riaza, Christoph Schliemann, Jose Cervera, Martin Kaufmann, Laura Torres-Miñana, Mathias Hänel, Evelyn Acuña-Cruz, Edgar JostJesus Lorenzo Algarra, Martina Crysandt, Lars Fransecky, Javier Cornago-Navascues, Sabrina Kraus, Joaquin Martinez-Lopez, Hermann Einsele, Dirk Niemann, Andreas Neubauer, Ruth Seggewiss-Bernhardt, Sebastian Scholl, Stefan A. Klein, Christoph Schmid, Markus Schaich, Martin Schmidt-Hieber, Sven Zukunft, Anthony D. Ho, Uwe Platzbecker, Claudia D. Baldus, Carsten Müller-Tidow, Christian Thiede, Martin Bornhäuser, Hubert Serve, Mark J. Levis, Pau Montesinos, Christoph Röllig, Richard F. Schlenk

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish (US)
Pages (from-to)34-41
Number of pages8
Issue number1
StatePublished - Jan 2023

ASJC Scopus subject areas

  • Hematology


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