Screening for myeloid mutations in patients with myelodysplastic syndromes and AML with myelodysplasia-related changes
Hematol., Transfus. Cell Ther. (Impr.)
;
44(3): 328-331, July-Sept. 2022. tab, graf
Article
Dans Anglais
| LILACS
| ID: biblio-1404985
ABSTRACT
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 andmethod:
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%) ofthe MDSpatients 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.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Syndromes myélodysplasiques
/
Leucémie aigüe myéloïde
Type d'étude:
Etude diagnostique
/
Étude de dépistage
Limites du sujet:
Adulte
/
Adulte très âgé
/
Femelle
/
Humains
/
Mâle
langue:
Anglais
Texte intégral:
Hematol., Transfus. Cell Ther. (Impr.)
Thème du journal:
Hematologia
/
TransfusÆo de Sangue
Année:
2022
Type:
Article
Pays d'affiliation:
Brésil
Institution/Pays d'affiliation:
Federal University of Pernambuco/BR
/
Hematology and Hemotherapy Foundation of Pernambuco (HEMOPE)/BR
/
Medical School of Ribeirão Preto/BR
/
University of Campinas - UNICAMP/BR
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