September 22, 2019  |  

Single-molecule DNA sequencing of acute myeloid leukemia and myelodysplastic syndromes with multiple TP53 alterations.

Authors: Lodé, Laurence and Ameur, Adam and Coste, Thibault and Ménard, Audrey and Richebourg, Steven and Gaillard, Jean-Baptiste and Le Bris, Yannick and Béné, Marie-Christine and Lavabre-Bertrand, Thierry and Soussi, Thierry

Although the frequency of TP53 mutations in hemato- logic malignancies is low, these mutations have a high clinical relevance and are usually associated with poor prognosis. Somatic TP53 mutations have been detected in up to 73.3% of cases of acute myeloid leukemia (AML) with complex karyotype and 18.9% of AML with other unfavorable cytogenetic risk factors. AML with TP53 mutations, and/or chromosomal aneuploidy, has been defined as a distinct AML subtype. In low-risk myelodysplastic syndromes (MDS), TP53 mutations occur at an early disease stage and predict disease progression. TP53 mutation diagnosis is now part of the revised European LeukemiaNet (ELN) guidelines.

Journal: Haematologica
DOI: 10.3324/haematol.2017.176719
Year: 2017

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