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

2013 
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
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