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Screening for myeloid mutations in patients with myelodysplastic syndromes and AML with myelodysplasia-related changes
Bezerra, Matheus F; Larrazábal, Bruna R; Lima, Aleide S; Mello, Mariana R; Pimentel, Raphael F; Weinhäuser, Isabel; Costa, Fernando F; Fertrin, Kleber Y; Araújo, Aderson S; Machado, Cíntia G; Bezerra, Marcos A; Lucena-Araujo, Antonio R.
  • Bezerra, Matheus F; Federal University of Pernambuco. Recife. BR
  • Larrazábal, Bruna R; Federal University of Pernambuco. Recife. BR
  • Lima, Aleide S; Federal University of Pernambuco. Recife. BR
  • Mello, Mariana R; University of Campinas - UNICAMP. Hematology and Hemotherapy Center (Hemocentro). Campinas. BR
  • Pimentel, Raphael F; Federal University of Pernambuco. Recife. BR
  • Weinhäuser, Isabel; Medical School of Ribeirão Preto. Department of Internal Medicine. Ribeirão Preto. BR
  • Costa, Fernando F; University of Campinas - UNICAMP. Hematology and Hemotherapy Center (Hemocentro). Campinas. BR
  • Fertrin, Kleber Y; University of Campinas - UNICAMP. Hematology and Hemotherapy Center (Hemocentro). Campinas. BR
  • Araújo, Aderson S; Hematology and Hemotherapy Foundation of Pernambuco (HEMOPE). Recife. BR
  • Machado, Cíntia G; Federal University of Pernambuco. Recife. BR
  • Bezerra, Marcos A; Federal University of Pernambuco. Recife. BR
  • Lucena-Araujo, Antonio R; Federal University of Pernambuco. Recife. BR
Hematol., Transfus. Cell Ther. (Impr.) ; 44(3): 328-331, July-Sept. 2022. tab, graf
Artigo em Inglês | 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 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%) 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.
Assuntos


Texto completo: DisponíveL Índice: LILACS (Américas) Assunto principal: Síndromes Mielodisplásicas / Leucemia Mieloide Aguda Tipo de estudo: Estudo diagnóstico / Estudo de rastreamento Limite: Adulto / Idoso / Feminino / Humanos / Masculino Idioma: Inglês Revista: Hematol., Transfus. Cell Ther. (Impr.) Assunto da revista: Hematologia / TransfusÆo de Sangue Ano de publicação: 2022 Tipo de documento: Artigo País de afiliação: Brasil Instituição/País de afiliação: 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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Texto completo: DisponíveL Índice: LILACS (Américas) Assunto principal: Síndromes Mielodisplásicas / Leucemia Mieloide Aguda Tipo de estudo: Estudo diagnóstico / Estudo de rastreamento Limite: Adulto / Idoso / Feminino / Humanos / Masculino Idioma: Inglês Revista: Hematol., Transfus. Cell Ther. (Impr.) Assunto da revista: Hematologia / TransfusÆo de Sangue Ano de publicação: 2022 Tipo de documento: Artigo País de afiliação: Brasil Instituição/País de afiliação: Federal University of Pernambuco/BR / Hematology and Hemotherapy Foundation of Pernambuco (HEMOPE)/BR / Medical School of Ribeirão Preto/BR / University of Campinas - UNICAMP/BR