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

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

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 M...

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Bibliographic Details
Published in:Biomedical reports Vol. 7; no. 4; pp. 343 - 348
Main Authors: Leite, Carolina, Delmonico, Lucas, Alves, Gilda, Gomes, Romario José, Martino, Mariana Rodrigues, da Silva, Aline Rodrigues, Moreira, Aline Dos Santos, Maioli, Maria Christina, Scherrer, Luciano Rios, Bastos, Elenice Ferreira, Irineu, Roberto, Ornellas, Maria Helena
Format: Journal Article
Language:English
Published: England D.A. Spandidos 01-10-2017
Subjects:
additional sex combs like 1
GTPase/NRAS proto-oncogene
tumor protein p53, and KRAS proto-oncogene
myelodysplastic syndrome
GTPase
transcriptional regulator
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Summary: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 ( ), tumor protein p53 ( ), and proto-oncogene and ( )/ proto-oncogene, ( ), 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 , and 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 were the most frequent in six patients (12%), followed by in two patients (4%) and 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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ISSN:2049-9434
2049-9442
DOI:10.3892/br.2017.965