US 2022/0064738 A1 · GENETIC ABNORMALITIES IN PLASMA CELL DYSCRASIAS

Abstract

Provided herein are non-invasive methods and biomarkers that identify progression and clonal evolution of plasma cell dyscrasias. Also provided are materials and methods for the diagnosis, prognosis, staging, and monitoring of plasma cell dyscrasias based on the presence of the biomarkers in a blood biopsy, as well as methods for monitoring the progression of a plasma cell dyscrasia, determining the efficacy of a therapeutic agent, determining a targeted therapy related to a plasma cell dyscrasia, and/or treating a plasma cell dyscrasia. The methods provided herein provide several advantages over invasive biopsies.

Claims27

Dependent claims

A method comprising:

determining that circulating free DNA (cfDNA), DNA from a circulating exosome (exoDNA), RNA from a circulating exosome (exoRNA), or DNA from a circulating tumor cell (CTC) from a blood biopsy from a human subject has one or more gene abnormalities;
wherein the one or more gene abnormalities comprises:
(i) a translocation selected from the group consisting of t(4;14), t(6;14), t(11;14), t(14;16), and t(14;20);
(ii) a copy number variation (CNV) selected from the group consisting of a 1q21 amplification, a 1p32 deletion, a 13q deletion, a 16q deletion, and a 17p deletion;
and
(iii) a single nucleotide variation (SNV) in a gene selected from the group consisting of CR1, DPY19L2, TMPRSS13, HBG1, KRAS, NRAS, BRAF, IRF4, MPEG1, RYR2, SLC24A1, FAT1, BCLAF1, CDC27, HLA-B, NBPF1, and ZFHX3.

3 more elements

Dependencies are inferred from the claim text.

Genetic abnormalities in plasma cell dyscrasias

Life of this patent

Genetic abnormalities in plasma cell dyscrasias

Life of this patent

Abstract

Claims27