RT Journal Article
T1 Identification of Immunoglobulin Gene Rearrangement Biomarkers in Multiple Myeloma through cfDNA-Based Liquid Biopsy Using tchDNA-Seq
A1 Buenache, Natalia
A1 Sánchez de la Cruz, Andrea
A1 Cuenca, Isabel
A1 Gimenez Sanchez, Alicia
A1 Moreno Sanz, Laura
A1 Martínez López, Joaquín
A1 Rosa Rosa, Juan Manuel
AB Multiple myeloma (MM) is a hematological malignancy characterized by the clonal proliferation of pathogenic CD138+ plasma cells (PPCs) in bone marrow (BM). Recent years have seen a significant increase in the treatment options for MM; however, most patients who achieve complete the response ultimately relapse. The earlier detection of tumor-related clonal DNA would thus be very beneficial for patients with MM and would enable timely therapeutic interventions to improve outcomes. Liquid biopsy of “cell-free DNA” (cfDNA) as a minimally invasive approach might be more effective than BM aspiration not only for the diagnosis but also for the detection of early recurrence. Most studies thus far have addressed the comparative quantification of patient-specific biomarkers in cfDNA with PPCs and BM samples, which have shown good correlations. However, there are limitations to this approach, such as the difficulty in obtaining enough circulating free tumor DNA to achieve sufficient sensitivity for the assessment of minimal residual disease. Herein, we summarize current data on methodologies to characterize MM, and we present evidence that targeted capture hybridization DNA sequencing (tchDNA-Seq) can provide robust biomarkers in cfDNA, including immunoglobulin (IG) rearrangements. We also show that detection can be improved by prior purification of the cfDNA. Overall, liquid biopsies of cfDNA to monitor IG rearrangements have the potential to provide important diagnostic, prognostic, and predictive information in patients with MM.
PB MDPI
SN 2072-6694
YR 2023
FD 2023-05-25
LK https://hdl.handle.net/20.500.14352/103562
UL https://hdl.handle.net/20.500.14352/103562
LA eng
NO Buenache, N.; Sánchez-delaCruz, A.; Cuenca, I.; Giménez, A.; Moreno, L.; Martínez-López, J.; Rosa-Rosa, J.M. Identification of Immunoglobulin Gene Rearrangement Biomarkers in Multiple Myeloma through cfDNA-Based Liquid Biopsy Using tchDNA-Seq. Cancers 2023, 15, 2911. https://doi.org/10.3390/ cancers15112911
NO Multiple myeloma has remained largely incurable despite improvements in patient outcomes in the era of targeted anti-myeloma agents. Targeted therapies used in oncology in recent years have significantly changed the way myeloma is treated and thus improved the prognosis for patients. We sought to identify new biomarkers for patient stratification and the prediction of treatment outcomes by applying targeted capture hybridization DNA sequencing (tchDNA-Seq) technology. We have evaluated plasma and bone marrow samples from a homogenous population of 23 patients, which IG rearrangements have the potential to provide important diagnostic, prognostic, and predictive information. We will likely be able to offer a more targeted and risk-adapted therapeutic approach to MM patients at different stages of their disease guided by these potential biomarkers.
NO Instituto de Salud Carlos III (España)
NO Fundación CRIS contra el cáncer
DS Docta Complutense
RD 17 abr 2025