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Immunoglobulin Heavy Chain Variable Region Mutational Status: Principle and Applications of a Clinically Available Assay

Author(s): David R. Czuchlewski | James M. Gale | Mohammad A. Vasef

Journal: The Asia-Pacific Journal of Oncology & Hematology
ISSN 1759-6637

Volume: 2;
Issue: 1;
Start page: 63;
Date: 2010;
Original page

Keywords: chronic lymphocytic leukemia | immunoglobulin heavy chain | somatic hypermutation | DNA sequencing | CD38 | ZAP-70 | molecular testing | clinical decision making

The presence or absence of somatic hypermutation in the immunoglobulin heavy chain gene variable region (IGHV) holds prognostic significance in cases of chronic lymphocytic leukemia (CLL). As somatic hypermutation, by its nature, affects nucleotides in this region at random, molecular testing to determine mutational status has been limited to direct sequencing of the entire region, followed by comparison with the known germline sequence – a procedure well-suited to the research laboratory but, until recently, unavailable for clinical purposes. As molecular genetic technology has advanced, a number of laboratories, including large commercial reference laboratories, have begun to offer clinical assays to determine IGHV mutational status directly. Herein, we describe the technical aspects of this test and present a strategy for integrating IGHV mutation status with other prognostic data in CLL.
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