title: Low Ten-eleven-translocation 2 (TET2) transcript level is independent of TET2 mutation in patients with myeloid neoplasms.
abstract: BACKGROUND
  New sequencing technologies have enabled the identification of mutations in Ten-eleven-translocation 2 (TET2), an enzyme that catalyzes the conversion of 5-methylcytosine into 5-hydroxymethylcytosine (5-hmC) in myeloid neoplasms. We have recently identified reduced TET2 mRNA expression in myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML), which is associated with a poor overall survival in MDS. We herein aimed to investigate TET2 mutations and their impact on TET2 expression in a cohort of patients with myeloid neoplasms, including MDS and AML patients.
  
  
  RESULTS
  TET2 mutations were observed in 8 out of 19 patients (42 %) with myeloid neoplasms. The TET2 expression profile was similar between in wild type and in TET2 mutated patients.
  
  
  CONCLUSIONS
  Our results suggest that TET2 expression is reduced in MDS/AML patients, independently of mutational status.
authors.affiliation: Hematology and Hemotherapy Center, University of Campinas/Hemocentro-Unicamp, Instituto Nacional de Ciência e Tecnologia do Sangue, Rua Carlos Chagas, 480, CEP 13083-878, Campinas, SP, Brazil.|Present address: Department of Internal Medicine, University of São Paulo at Ribeirão Preto Medical School, Ribeirão Preto, SP, Brazil.
authors.forename: Renata
authors.initials: R
authors.lastname: Scopim-Ribeiro
authors.affiliation: Hematology and Hemotherapy Center, University of Campinas/Hemocentro-Unicamp, Instituto Nacional de Ciência e Tecnologia do Sangue, Rua Carlos Chagas, 480, CEP 13083-878, Campinas, SP, Brazil.|Present address: Department of Internal Medicine, University of São Paulo at Ribeirão Preto Medical School, Ribeirão Preto, SP, Brazil.
authors.forename: João Agostinho
authors.initials: JA
authors.lastname: Machado-Neto
authors.affiliation: Hematology and Hemotherapy Center, University of Campinas/Hemocentro-Unicamp, Instituto Nacional de Ciência e Tecnologia do Sangue, Rua Carlos Chagas, 480, CEP 13083-878, Campinas, SP, Brazil.
authors.forename: Paula
authors.initials: P
authors.lastname: de Melo Campos
authors.affiliation: Hematology and Hemotherapy Center, University of Campinas/Hemocentro-Unicamp, Instituto Nacional de Ciência e Tecnologia do Sangue, Rua Carlos Chagas, 480, CEP 13083-878, Campinas, SP, Brazil.
authors.forename: Fernanda Soares
authors.initials: FS
authors.lastname: Niemann
authors.affiliation: Hematology and Hemotherapy Center, University of Campinas/Hemocentro-Unicamp, Instituto Nacional de Ciência e Tecnologia do Sangue, Rua Carlos Chagas, 480, CEP 13083-878, Campinas, SP, Brazil.
authors.forename: Irene
authors.initials: I
authors.lastname: Lorand-Metze
authors.affiliation: Hematology and Hemotherapy Center, University of Campinas/Hemocentro-Unicamp, Instituto Nacional de Ciência e Tecnologia do Sangue, Rua Carlos Chagas, 480, CEP 13083-878, Campinas, SP, Brazil.
authors.forename: Fernando Ferreira
authors.initials: FF
authors.lastname: Costa
authors.affiliation: Hematology and Hemotherapy Center, University of Campinas/Hemocentro-Unicamp, Instituto Nacional de Ciência e Tecnologia do Sangue, Rua Carlos Chagas, 480, CEP 13083-878, Campinas, SP, Brazil.
authors.forename: Sara Teresinha
authors.initials: ST
authors.lastname: Olalla Saad
authors.affiliation: Hematology and Hemotherapy Center, University of Campinas/Hemocentro-Unicamp, Instituto Nacional de Ciência e Tecnologia do Sangue, Rua Carlos Chagas, 480, CEP 13083-878, Campinas, SP, Brazil. ftraina@fmrp.usp.br.|Present address: Department of Internal Medicine, University of São Paulo at Ribeirão Preto Medical School, Ribeirão Preto, SP, Brazil. ftraina@fmrp.usp.br.
authors.forename: Fabiola
authors.initials: F
authors.lastname: Traina
mesh_terms: D000328:Adult; D000368:Aged; D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics*; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000032:analysis / Q000235:genetics*; D049308:Dioxygenases; D015536:Down-Regulation; D005260:Female; D015971:Gene Expression Regulation, Enzymologic; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D011518:Proto-Oncogene Proteins / Q000032:analysis / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics*
chemical_list: D014408:Biomarkers, Tumor; D004268:DNA-Binding Proteins; D011518:Proto-Oncogene Proteins; D012333:RNA, Messenger; D049308:Dioxygenases; C541081:TET2 protein, human
keywords: Acute myeloid leukemia; Mutation; Myelodysplastic syndromes; TET2; Ten-eleven-translocation 2