Keywords
next generation sequencing
mutations
clonal evolution
precision medicine
neoplasms stratification
How to Cite
Abstract
Multiple myeloma is a neoplastic disease of plasma cells that represents the second most common hematological neoplasm worldwide. In the last decade, great progress has been made in the molecular characterization of this disease with the incorporation of new technologies like next generation sequencing and single cell sequencing. The degree of intra and interpatient molecular heterogeneity observed in multiple myeloma is higher than that of other types of hematological cancers with hundreds of mutations in tenths of different genes generated by diverse mechanisms. Furthermore, the presence of multiple neoplastic subclones within the same patient has been reported. This subclones modify their frequency according to disease stage, therapy and anatomical site, which has a direct incidence over the prognostic stratification and treatment. Currently, molecular heterogeneity is the most relevant factor for establishing risk classifications and for designing new personalized therapeutic strategies in this disease.
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