Cytopenias + mutations - Dysplasia = what?

Abstract

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?