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Identification of a novel mutation of the FLT3 gene located on the juxtamembrane domain from acute myeloid leukemia patients.
Arwanih, Elly Yanah; Rinaldi, Ikhwan; Wanandi, Septelia Inawati; Louisa, Melva.
Afiliação
  • Arwanih EY; Doctoral Program in Biomedical Sciences, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia.
  • Rinaldi I; Division of Hematology and Medical Oncology, Department of Internal Medicine, Cipto Mangunkusumo National General Hospital, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia.
  • Wanandi SI; Division of Hematology and Medical Oncology, Department of Internal Medicine, Cipto Mangunkusumo National General Hospital, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia. ikhwan.rinaldi@gmail.com.
  • Louisa M; Department of Biochemistry and Molecular Biology, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia.
Mol Biol Rep ; 51(1): 867, 2024 Jul 29.
Article em En | MEDLINE | ID: mdl-39073493
ABSTRACT

BACKGROUND:

FLT3 gene mutations are genetic abnormality that caused leukemogenesis. Furthermore, presence of FLT3 mutations is associated with poor prognosis in AML. This study aimed to identify FLT3 gene mutations so that it can be used as a genetic reference for the AML patients in Indonesian population.

METHODS:

This cross-sectional study recruited 63 AML de novo patients between August 2021 and July 2023 at Cipto Mangukusumo General Hospital and Dharmais Cancer Hospital. We collected peripheral blood from the patients for DNA isolation. FLT3 gene mutation was detected using PCR method, then followed by the Sanger sequencing. Novel mutation in exon-14 continued to in silico study using SWISS MODEL server for modelling protein and PyMOL2 software for visualizing the protein model.

RESULTS:

Frequency FLT3-ITD mutation was 22% and 6 (10%) patients had a novel mutation on juxtamembrane domain. The number of FLT3-ITD insertions was 24 bp to 111 bp, with a median of 72 bp. Novel mutation indicated a change in the protein sequence at amino acid number 572 from Tyrosine to Valine and formed a stop codon (UGA) at amino acid position ins572G573. In-silico study from novel mutation showed the receptor FLT3 protein was a loss of most of the juxtamembrane domain and the entire kinase domain.

CONCLUSION:

A novel FLT3 gene mutation was found in this study in the juxtamembrane domain. Based on the sequencing analysis and in silico studies, this mutation is likely to affect the activity of the FLT3 receptor. Therefore, further studies on this novel mutation are needed.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Leucemia Mieloide Aguda / Tirosina Quinase 3 Semelhante a fms / Mutação Limite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: Mol Biol Rep Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Indonésia País de publicação: Holanda

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Leucemia Mieloide Aguda / Tirosina Quinase 3 Semelhante a fms / Mutação Limite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: Mol Biol Rep Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Indonésia País de publicação: Holanda