Cytopenias + mutations − dysplasia = what?

Increasingly, clinicians are obtaining molecular genetic tests when evaluating patients with unexplained cytopenias. In this issue of Blood, Kwok et al and Cargo et al describe results of mutation testing in 2 series of patients with nondiagnostic marrows. These reports raise an important question: if a clonal mutation is discovered, yet diagnostic criteria for a hematologic neoplasm are not met, what is the diagnosis?1,2