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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
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TP53 status and impact on AML prognosis within the ELN 2022 risk classification
Shaun Fleming1,2, Xavier Cheng-Hong Tsai3, Rhiannon Morris4
1Australian Centre for Blood Diseases, Monash University, Melbourne, Australia.
Blood
|August 30, 2023
Summary
This study analyzes TP53 mutations in acute myeloid leukemia (AML) risk groups and their prognostic impact. It investigates the relevance of low variant allelic fraction and specific genetic abnormalities in TP53-mutated AML.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Acute myeloid leukemia (AML) is a heterogeneous hematologic malignancy.
- Accurate risk stratification is crucial for optimal AML treatment.
- The role of TP53 mutations in AML prognosis is increasingly recognized.
Purpose of the Study:
- To determine the frequency of TP53 mutations across European LeukemiaNet 2022 AML risk categories.
- To evaluate the prognostic significance of a TP53 mutated variant allelic fraction below 10%.
- To assess the impact of specific chromosomal abnormalities and myelodysplasia-related gene mutations in TP53-mutated AML.
Main Methods:
- Analysis of TP53 mutation frequency within defined AML risk groups.
- Correlation of TP53 variant allelic fraction (<10%) with clinical outcomes.
- Prognostic evaluation of genetic aberrations (e.g., -7, -5/del(5q), -17/abn(17p), complex/monosomal karyotype) in conjunction with TP53 status.
Main Results:
- TP53 mutation frequency varied across European LeukemiaNet 2022 AML risk classifications.
- A TP53 mutated variant allelic fraction <10% was assessed for its prognostic relevance.
- The prognostic impact of specific genetic abnormalities was analyzed in the context of TP53 mutation status.
Conclusions:
- TP53 mutation frequency is a key factor within AML risk stratification.
- Low variant allelic fraction of TP53 mutations may have prognostic implications.
- Combined genetic abnormalities with TP53 mutations significantly influence AML prognosis.

