RNA-based targeted gene sequencing improves the diagnostic yield of mutant detection in chronic myeloid leukemia

Mutation detection is increasingly used for the management of hematological malignancies. Prior whole transcriptome and whole exome sequencing studies using total RNA and DNA identified diverse mutation types in cancer-related genes associated with treatment failure in patients with chronic myeloid leukemia (CML). Variants included single nucleotide variants and small insertions/deletions, plus fusion transcripts and partial or whole gene deletions. The hypothesis that all of these mutation types could be detected by a single cost-effective hybridization capture next-generation sequencing method using total RNA was assessed.

Source: Journal of Molecular Diagnostics - May 9, 2022 Category: Pathology Authors: Naranie Shanmuganathan, Carol Wadham, Daniel Thomson, Nur Hezrin Shahrin, Chloe Vignaud, Vanessa Obourn, Shalini Chaturvedi, Feng Yang, Jinghua Feng, Verity Saunders, Chung H. Kok, David Yeung, Rob M. King, Rosalie R. Kenyon, Ming Lin, Paul Wang, Hamish S Tags: Regular Article Source Type: research