PMID- 28928972
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20201001
IS  - 2049-9434 (Print)
IS  - 2049-9442 (Electronic)
IS  - 2049-9434 (Linking)
VI  - 7
IP  - 4
DP  - 2017 Oct
TI  - 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.
PG  - 343-348
LID - 10.3892/br.2017.965 [doi]
AB  - 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.
FAU - Leite, Carolina
AU  - Leite C
AD  - Haematology Service, Pedro Ernesto University Hospital, Rio de Janeiro 20550-170, 
      Brazil.
FAU - Delmonico, Lucas
AU  - Delmonico L
AD  - Circulating Biomarkers Laboratory, Faculty of Medical Sciences, State University 
      of Rio de Janeiro, Rio de Janeiro 20550-170, Brazil.
FAU - Alves, Gilda
AU  - Alves G
AD  - Circulating Biomarkers Laboratory, Faculty of Medical Sciences, State University 
      of Rio de Janeiro, Rio de Janeiro 20550-170, Brazil.
FAU - Gomes, Romario Jose
AU  - Gomes RJ
AD  - Circulating Biomarkers Laboratory, Faculty of Medical Sciences, State University 
      of Rio de Janeiro, Rio de Janeiro 20550-170, Brazil.
FAU - Martino, Mariana Rodrigues
AU  - Martino MR
AD  - Circulating Biomarkers Laboratory, Faculty of Medical Sciences, State University 
      of Rio de Janeiro, Rio de Janeiro 20550-170, Brazil.
FAU - da Silva, Aline Rodrigues
AU  - da Silva AR
AD  - Circulating Biomarkers Laboratory, Faculty of Medical Sciences, State University 
      of Rio de Janeiro, Rio de Janeiro 20550-170, Brazil.
FAU - Moreira, Aline Dos Santos
AU  - Moreira ADS
AD  - Bioinformatics and Functional Genomic Laboratory, Oswaldo Cruz Institute, Oswaldo 
      Cruz Foundation, Rio de Janeiro 21040-900, Brazil.
FAU - Maioli, Maria Christina
AU  - Maioli MC
AD  - Haematology Service, Pedro Ernesto University Hospital, Rio de Janeiro 20550-170, 
      Brazil.
FAU - Scherrer, Luciano Rios
AU  - Scherrer LR
AD  - Department of Engineering and Production, Kennedy Faculty, Belo Horizonte 
      31535-040, Brazil.
FAU - Bastos, Elenice Ferreira
AU  - Bastos EF
AD  - Department of Medical Genetic, Fernandes Figueira Institute, Oswaldo Cruz 
      Foundation, Rio de Janeiro 22250-020, Brazil.
FAU - Irineu, Roberto
AU  - Irineu R
AD  - Pedro II School, Realengo II Campus, Rio de Janeiro 21710-261, Brazil.
FAU - Ornellas, Maria Helena
AU  - Ornellas MH
AD  - Circulating Biomarkers Laboratory, Faculty of Medical Sciences, State University 
      of Rio de Janeiro, Rio de Janeiro 20550-170, Brazil.
LA  - eng
PT  - Journal Article
DEP - 20170809
PL  - England
TA  - Biomed Rep
JT  - Biomedical reports
JID - 101613227
PMC - PMC5590036
OTO - NOTNLM
OT  - GTPase
OT  - GTPase/NRAS proto-oncogene
OT  - additional sex combs like 1
OT  - myelodysplastic syndrome
OT  - transcriptional regulator
OT  - tumor protein p53, and KRAS proto-oncogene
EDAT- 2017/09/21 06:00
MHDA- 2017/09/21 06:01
PMCR- 2017/08/09
CRDT- 2017/09/21 06:00
PHST- 2017/06/13 00:00 [received]
PHST- 2017/07/28 00:00 [accepted]
PHST- 2017/09/21 06:00 [entrez]
PHST- 2017/09/21 06:00 [pubmed]
PHST- 2017/09/21 06:01 [medline]
PHST- 2017/08/09 00:00 [pmc-release]
AID - BR-0-0-965 [pii]
AID - 10.3892/br.2017.965 [doi]
PST - ppublish
SO  - Biomed Rep. 2017 Oct;7(4):343-348. doi: 10.3892/br.2017.965. Epub 2017 Aug 9.