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Sensitivity, specificity, and accuracy of molecular profiling on circulating cell-free DNA in refractory or relapsed multiple myeloma patients, results of MM-EP1 study.
- Source :
- Leukemia & Lymphoma; Jun2024, Vol. 65 Issue 6, p789-799, 11p
- Publication Year :
- 2024
-
Abstract
- As a promising alternative to bone marrow aspiration (BMA), mutational profiling on blood-derived circulating cell-free tumor DNA (cfDNA) is a harmless and simple technique to monitor molecular response and treatment resistance of patients with refractory/relapsed multiple myeloma (R/R MM). We evaluated the sensitivity and specificity of cfDNA compared to BMA CD138 positive myeloma plasma cells (PCs) in a series of 45 R/R MM patients using the 29-gene targeted panel (AmpliSeq) NGS. KRAS, NRAS, FAM46C, DIS3, and TP53 were the most frequently mutated genes. The average sensitivity and specificity of cfDNA detection were 65% and 97%, respectively. The concordance per gene between the two samples was good to excellent according to Cohen's κ coefficients interpretation. An increased number of mutations detected in cfDNA were associated with a decreased overall survival. In conclusion, we demonstrated cfDNA NGS analysis feasibility and accuracy in R/R MM patients who may benefit from early phase clinical trial. [ABSTRACT FROM AUTHOR]
- Subjects :
- CIRCULATING tumor DNA
CELL-free DNA
MULTIPLE myeloma
BONE marrow
OVERALL survival
Subjects
Details
- Language :
- English
- ISSN :
- 10428194
- Volume :
- 65
- Issue :
- 6
- Database :
- Complementary Index
- Journal :
- Leukemia & Lymphoma
- Publication Type :
- Academic Journal
- Accession number :
- 177594319
- Full Text :
- https://doi.org/10.1080/10428194.2024.2320258