An update of novel identified cytogenetic and molecular biomarkers in the laboratory diagnosis of hematological neoplasia

Abstract Cancer diagnosis and identification of novel biomarkers are a rapidly changing field and open new doors into personalized medicine. Particularly in the diagnosis of hematological neoplasia, the identification of novel biomarkers has become more important because of biological sub-classification, prognosis and targeted and individualized therapies. Therefore, techniques like blood count, morphology, cytochemistry, histology, immunophenotyping, cytogenetics and molecular genetics are essential and cannot be denied nowadays. In the last years, a broad spectrum of novel molecular biomarkers has been identified in the genetic and molecular characterization of myelodysplastic syndromes. Lots of these novel molecular biomarkers gained entry in the routine diagnostics and provide an excess profit for patients. However, to ensure a cost-effective, targeted and individualized diagnostic testing, application of existing techniques has to be weighed against each other to obtain the best possible combination of targeted diagnostics. This review summarized thus far the diagnostic-relevant morphologic, cytogenetic and molecular biomarkers in the laboratory diagnosis of hematological neoplasia.