Comprehensive translocation and clonality detection in lymphoproliferative disorders by next-generation sequencing

摘要

Detection and characterization of clonal immunoglob- ulin (IG)/T-cell receptor (TR) rearrangements and translo- cations in lymphoproliferative neoplasms provide critical information in the diagnostic pathway and are valuable tools for addressing research questions involving B- and T-cell lymphoproliferative disorders (LPD). 1,2 These include ascertaining the clonal nature of lymphoid prolif- erations, 3,4 characterization of translocations in lym- phomas and leukemias, 4 characterization of CDR3 regions for minimal residual disease target identification 5 and stereotyping analysis. 6 Until recently, collecting this information required a combination of different method- ologies, such as gene-scanning/heteroduplex analysis, fluorescence in situ hybridization (FISH) and Sanger sequencing. The incorporation of next-generation sequencing (NGS) in clinical laboratories opens up new possibilities since an integrated NGS approach can pro- vide data on sequence and structural variation in a single assay, including translocations and IG/TR rearrange- ments, and has been shown to be successful for the char- acterisation of IG translocations in myeloma and lym- phomas.