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. 2022 Jul-Sep;44(3):328-331.
doi: 10.1016/j.htct.2020.10.967. Epub 2021 Jan 3.

Screening for myeloid mutations in patients with myelodysplastic syndromes and AML with myelodysplasia-related changes

Matheus F Bezerra  1 , Bruna R Larrazábal  2 , Aleide S Lima  3 , Mariana R Mello  4 , Raphael F Pimentel  5 , Isabel Weinhäuser  6 , Fernando F Costa  4 , Kleber Y Fertrin  4 , Aderson S Araújo  7 , Cíntia G Machado  8 , Marcos A Bezerra  3 , Antonio R Lucena-Araujo  3
Affiliations

Screening for myeloid mutations in patients with myelodysplastic syndromes and AML with myelodysplasia-related changes

Matheus F Bezerra et al. Hematol Transfus Cell Ther. 2022 Jul-Sep.

Abstract

Introduction: One of the most critical complications in myelodysplastic syndromes (MDS) is the progression to acute myeloid leukemia (AML). The dynamics of clonal evolution in MDS and how acquired mutations can be used as biomarkers to track disease progression remains under investigation.

Objective and method: Herein, we investigated the frequency of common myeloid clonal mutations (FLT3, NPM1, JAK2, IDH1 and IDH2) in 88 patients with MDS and 35 AML patients with myelodysplasia-related changes, followed at a single reference center in northeastern Brazil.

Results: Overall, 9/88 (10%) of the MDS patients and 9/35 (26%) of the secondary AML patients had at least one mutation. While the JAK2 V617F mutation was the most frequent in the MDS patients, the FLT3, NPM1, IDH1 and IDH2 mutations were more frequently found in the secondary AML group. Furthermore, there was a higher frequency of FLT3, NPM1, IDH1 and IDH2 mutations in MDS patients classified as high-risk subtypes than in those of lower risk.

Conclusion: Despite the limited sample size, our data suggest that mutations in FLT3, NPM1, IDH1 and IDH2 genes could be potential biomarkers to detect early disease progression in MDS.

Keywords: AML progression; Clonal evolution; Myelodysplastic syndrome.

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Figures

Fig. 1
Fig. 1
Frequency of FLT3, NPM1, JAK2, IDH1 and IDH2 mutations in MDS and AML patients with myelodysplasia-related changes.
See this image and copyright information in PMC

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