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Assessment of the Metabolic Profile of Primary Leukemia Cells
Published on: November 21, 2018
Molecular profiling and clinical implications of patients with acute myeloid leukemia and extramedullary
Jan-Niklas Eckardt1, Friedrich Stölzel2, Desiree Kunadt2
1Department of Internal Medicine I, University Hospital Carl Gustav Carus, Fetscherstraße 74, 01307, Dresden, Saxony, Germany. jan-niklas.eckardt@uniklinikum-dresden.de.
Background:
Extramedullary manifestations (EM) are rare in acute myeloid leukemia (AML) and their impact on clinical outcomes is controversially discussed.
Methods:
We retrospectively analyzed a large multi-center cohort of 1583 newly diagnosed AML patients, of whom 225 (14.21%) had EM.
Results:
AML patients with EM presented with significantly higher counts of white blood cells (p < 0.0001), peripheral blood blasts (p < 0.0001), bone marrow blasts (p = 0.019), and LDH (p < 0.0001). Regarding molecular genetics, EM AML was associated with mutations of NPM1 (OR: 1.66, p < 0.001), FLT3-ITD (OR: 1.72, p < 0.001) and PTPN11 (OR: 2.46, p < 0.001). With regard to clinical outcomes, EM AML patients were less likely to achieve complete remissions (OR: 0.62, p = 0.004), and had a higher early death rate (OR: 2.23, p = 0.003). Multivariable analysis revealed EM as an independent risk factor for reduced overall survival (hazard ratio [HR]: 1.43, p < 0.001), however, for patients who received allogeneic hematopoietic cell transplantation (HCT) survival did not differ. For patients bearing EM AML, multivariable analysis unveiled mutated TP53 and IKZF1 as independent risk factors for reduced event-free (HR: 4.45, p < 0.001, and HR: 2.05, p = 0.044, respectively) and overall survival (HR: 2.48, p = 0.026, and HR: 2.63, p = 0.008, respectively).
Conclusion:
Our analysis represents one of the largest cohorts of EM AML and establishes key molecular markers linked to EM, providing new evidence that EM is associated with adverse risk in AML and may warrant allogeneic HCT in eligible patients with EM.
Insights
Extramedullary manifestations (EM) in acute myeloid leukemia (AML) are linked to poorer outcomes, including lower remission rates and higher early death rates. Allogeneic hematopoietic cell transplantation may improve survival for eligible patients with EM AML.
Area of Science:
- Hematology
- Oncology
- Clinical Research
Background:
- Extramedullary manifestations (EM) are uncommon in acute myeloid leukemia (AML).
- The clinical impact of EM on AML patient outcomes remains debated.
- This study investigates the characteristics and prognostic significance of EM in a large AML cohort.
Purpose of the Study:
- To determine the incidence and clinical features of EM in newly diagnosed AML patients.
- To identify molecular markers associated with EM in AML.
- To evaluate the impact of EM on treatment response and survival outcomes in AML.
Main Methods:
- Retrospective analysis of a multi-center cohort of 1583 newly diagnosed AML patients.
- Comparison of clinical and molecular characteristics between AML patients with and without EM.
- Multivariable analysis to assess the independent prognostic value of EM and associated mutations.
Main Results:
- EM was observed in 14.21% of AML patients (n=225).
- EM patients exhibited higher white blood cell counts, blast percentages, and LDH levels.
- NPM1, FLT3-ITD, and PTPN11 mutations were more frequent in EM AML.
- EM AML patients had lower complete remission rates and higher early death rates.
- EM is an independent risk factor for reduced overall survival, but not for patients undergoing allogeneic hematopoietic cell transplantation (HCT).
- TP53 and IKZF1 mutations are independent risk factors for reduced event-free and overall survival in EM AML patients.
Conclusions:
- This study provides evidence that EM is associated with adverse risk in AML.
- Key molecular markers linked to EM have been identified.
- Allogeneic HCT may be a beneficial treatment option for eligible patients with EM AML.
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