title: Case report: A novel TET2 mutation in a patient with refractory cytopenia with multilineage dysplasia.
abstract: Myelodysplastic syndrome diagnosis of karyotypically normal patients may be elusive because it relies exclusively on morphological and clinical data. In routine practice, finding of an acquired mutation or a cytogenetic abnormality provides irrefutable evidence of the clonal nature of that disease. Recurrent deletions and somatic mutations in TET2, a gene involved in epigenetic regulation, have been reported in about 20% of adult patients with myelodysplastic syndrome. We report a novel g.95805C>T, nonsense TET2 mutation, leading to a premature stop codon (p.Gln913*), in an adult patient with refractory cytopenia with multilineage dysplasia.
authors.affiliation: Laboratório de Biologia Molecular, Centro de Transplante de Medula Óssea, Instituto Nacional do Câncer, Rio de Janeiro, RJ, Brasil diego.coutinho@ymail.com.
authors.forename: D F
authors.initials: DF
authors.lastname: Coutinho
authors.forename: C
authors.initials: C
authors.lastname: Diniz
authors.forename: R L D
authors.initials: RL
authors.lastname: Filgueiras
authors.forename: R L R
authors.initials: RL
authors.lastname: Baptista
authors.forename: J P
authors.initials: JP
authors.lastname: Ayres-Silva
authors.forename: B C R
authors.initials: BC
authors.lastname: Monte-Mór
authors.forename: M H
authors.initials: MH
authors.lastname: Bonamino
authors.forename: I R
authors.initials: IR
authors.lastname: Zalcberg
mesh_terms: D000368:Aged; D018389:Codon, Nonsense; D004268:DNA-Binding Proteins / Q000235:genetics*; D049308:Dioxygenases; D005260:Female; D006801:Humans; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D004268:DNA-Binding Proteins; D011518:Proto-Oncogene Proteins; D049308:Dioxygenases; C541081:TET2 protein, human