Comprehensive detection of chromosomal translocations in lymphoproliferative disorders by massively parallel sequencing

We describe a method using solution capture for enrichment of known translocation breakpoints and massively parallel sequencing for the detection of balanced translocation in formalin-fixed tissues with a B-cell LPD. We detected a total of 57 rearrangements with a high concordance of 94.2% when compared to FISH. We detected translocations betweenBCL2,BCL6, andMYC and the three Ig loci and non-Ig loci, including novel partners forMYC andBCL6. In addition, massively parallel sequencing allowed a detailed analysis of the structure of the resulting chromosomal fusions. Our comparison shows the feasibility of using massively parallel sequencing for detecting balanced translocations in B-cell LPDs and advantages and disadvantages to both methods, and how they can complement each other.
Source: Journal of Hematopathology - Category: Pathology Source Type: research