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A novel TET2 mutation in a patient with refractory cytopenia with multilineage dysplasia

Author(s): D.F. Coutinho, C. Diniz, R.L.D. Filgueiras, R.L.R. Baptista,J.P. Ayres-Silva, B.C.R. Monte-Mór, M.H. Bonamino, I.R. Zalcberg

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.