Jennifer M Grants, Christina May, Josh Bridgers, Shujun Huang, Sierra Gillis, Barbara Meissner, Merrill Boyle, Susana Ben-Neriah, Stacy Hung, Gerben Duns, Laura Hilton, Alina S Gerrie, Marco Marra, Robert Kridel, Peter J B Sabatini, Christian Steidl, David W Scott, Aly Karsan
BACKGROUND: Somatic hypermutation (SHM) status of the immunoglobulin heavy variable (IGHV) gene plays a crucial role in determining the prognosis and treatment of patients with chronic lymphocytic leukemia (CLL). A common approach for determining SHM status is multiplex polymerase chain reaction and Sanger sequencing of the immunoglobin heavy locus; however, this technique is low throughput, is vulnerable to failure, and does not allow multiplexing with other diagnostic assays. METHODS: Here we designed and validated a DNA targeted capture approach to detect immunoglobulin heavy variable somatic hypermutation (IGHV SHM) status as a submodule of a larger next-generation sequencing (NGS) panel that also includes probes for ATM, BIRC3, CHD2, KLHL6, MYD88, NOTCH1, NOTCH2, POT1, SF3B1, TP53, and XPO1...
January 4, 2024: Clinical Chemistry