Screening of mutations in the additional sex combs like 1, transcriptional regulator, tumor protein p53, and KRAS proto-oncogene, GTPase/NRAS proto-oncogene, GTPase genes of patients with myelodysplastic syndrome

  • Authors:
    • Carolina Leite
    • Lucas Delmonico
    • Gilda Alves
    • Romario José Gomes
    • Mariana Rodrigues Martino
    • Aline Rodrigues da Silva
    • Aline dos Santos Moreira
    • Maria Christina Maioli
    • Luciano Rios Scherrer
    • Elenice Ferreira Bastos
    • Roberto Irineu
    • Maria Helena Ornellas
  • View Affiliations

  • Published online on: August 9, 2017     https://doi.org/10.3892/br.2017.965
  • Pages:343-348
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Abstract

Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal bone marrow disorders characterized by ineffective hematopoiesis, different degrees of cellular dysplasia, and increased risk of progression to acute myeloid leukemia. International Prognostic Scoring System is the gold standard for MDS classification; however, patients exhibiting different clinical behaviors often coexist in the same group, indicating that the currently available scoring systems are insufficient. The genes that have recently been identified as mutated in MDS, including additional sex combs like 1, transcriptional regulator (ASXL1), tumor protein p53 (TP53), and KRAS proto-oncogene and GTPase (KRAS)/NRAS proto-oncogene, GTPase (NRAS), may contribute to a more comprehensive classification, as well as to the prognosis and progression of the disease. In the present study, the mutations in the ASXL1, TP53 and NRAS/KRAS genes in 50 patients were evaluated by sequencing genomic bone marrow DNA. Nine patients (18%) presented with at least one type of mutation. Mutations in TP53 were the most frequent in six patients (12%), followed by ASXL1 in two patients (4%) and NRAS in one patient (2%). The nine mutations were detected in patients with low- and high-risk MDS. The screening of mutations in MDS cases contributes to the application of personalized medicine.

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October 2017
Volume 7 Issue 4

Print ISSN: 2049-9434
Online ISSN:2049-9442

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APA
Leite, C., Delmonico, L., Alves, G., Gomes, R.J., Martino, M.R., Silva, A.R. ... Ornellas, M.H. (2017). Screening of mutations in the additional sex combs like 1, transcriptional regulator, tumor protein p53, and KRAS proto-oncogene, GTPase/NRAS proto-oncogene, GTPase genes of patients with myelodysplastic syndrome. Biomedical Reports, 7, 343-348. https://doi.org/10.3892/br.2017.965
MLA
Leite, C., Delmonico, L., Alves, G., Gomes, R. J., Martino, M. R., Silva, A. R., Moreira, A. d., Maioli, M. C., Scherrer, L. R., Bastos, E. F., Irineu, R., Ornellas, M. H."Screening of mutations in the additional sex combs like 1, transcriptional regulator, tumor protein p53, and KRAS proto-oncogene, GTPase/NRAS proto-oncogene, GTPase genes of patients with myelodysplastic syndrome". Biomedical Reports 7.4 (2017): 343-348.
Chicago
Leite, C., Delmonico, L., Alves, G., Gomes, R. J., Martino, M. R., Silva, A. R., Moreira, A. d., Maioli, M. C., Scherrer, L. R., Bastos, E. F., Irineu, R., Ornellas, M. H."Screening of mutations in the additional sex combs like 1, transcriptional regulator, tumor protein p53, and KRAS proto-oncogene, GTPase/NRAS proto-oncogene, GTPase genes of patients with myelodysplastic syndrome". Biomedical Reports 7, no. 4 (2017): 343-348. https://doi.org/10.3892/br.2017.965