Feasibility and clinical utility of comprehensive genomic profiling of hematological malignancies.

ABSTRACT: Identification of genetic alterations through next-generation sequencing (NGS) can guide treatment decision-making by providing information on diagnosis, therapy selection, and prognostic stratification in patients with hematological malignancies. Although the utility of NGS-based genomic profiling assays was investigated in hematological malignancies, no assays sufficiently cover driver mutations, including recently discovered ones, as well as fusions and/or pathogenic germline variants. To address these issues, here we have devised an integrated DNA/RNA profiling assay to detect various types of somatic alterations and germline variants at once. Particularly, our assay can successfully identify copy number alterations and structural variations, including immunoglobulin heavy chain transl

SUBMITTER: Fukuhara S 

PROVIDER: S-EPMC9357666 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature