Alterações moleculares no Mieloma Múltiplo

In recent years, we have seen an explosion in knowledge on genetic and cytogenetic mechanisms involved in the pathogenesis of multiple myeloma, mainly due to the incorporation of molecular tools in its study (fluorescence in situ hybridization - FISH, Real time PCR and RNA microarrays). These tools have enabled the study of cells in interphase and to detect cryptic chromosomal abnormalities, replacing cytogenetic techniques. The technical complexities associated with the performance of these tests, however, have limited their widespread applicability in routine clinical practice. The aim of this work is to review the present status of our knowledge of the pathogenetic pathways of the disease, the prognostic value of the main chromosomal abnormalities and its role in risk stratification of multiple myeloma patients. We detail technical aspects, emphasizing the importance to restrict analysis to myeloma cells. Finally, we discuss different strategies and recommendations for the adoption of routine molecular genetic testing.