Aberrant chromosomal translocations involving the immunoglobulin heavy chain (IGH) locus and clonal rearrangements of the variable (V), diversity (D), joining (J) segments (V[D]J) of the immunoglobulin gene are implicated in the initiation of mature B-cell malignan-cies, including myeloma. Analysis of these events provides information useful for diagnosis and prediction of prognosis, and also provides a useful monitoring strategy for response to treatment in patients with these diseases. Current methods for identification of these events are not generally applicable and give a biased picture of the prognostic significance and clinical relevance of these events. Novel methodologies based on next-generation sequencing are a new and more efficient genetic tool that can be used to screen and characterize these changes at the nucleotide level, offering a deeper and better understanding of the genetic basis of these complex diseases. In this work, we provide a review of the molecular basis of B-cell neoplasms, the methods used to detect them, and how they translate into the clinic.
CITATION STYLE
Morgan, G., Boyle, E. M., Wardell, C., Walker, B. A., Davies, F. E., & Leleu, X. (2014). B-cell malignancies: capture-sequencing strategies for identification of gene rearrangements and translocations into immunoglobulin gene loci. Blood and Lymphatic Cancer: Targets and Therapy, 107. https://doi.org/10.2147/blctt.s51503
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