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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&gt;T, nonsense TET2 mutation, leading to a premature stop codon (p.Gln913*), in an adult patient with refractory cytopenia with multilineage dysplasia.

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