TY - JOUR
T1 - Is Circulating DNA and Tumor Cells in Myeloma the Way Forward?
AU - Arnault Carneiro, Emilie
AU - Barahona, Filipa
AU - Pestana, Carolina
AU - João, Cristina
N1 - Funding Information:
This research was funded by the Champalimaud Foundation; by the Fundação para a Ciência e Tecnologia—FCT (Research Grant PTDC/MEC-HEM/30315/2017).
Publisher Copyright:
© 2022 by the authors.
PY - 2022/3
Y1 - 2022/3
N2 - Multiple myeloma (MM) is the second deadliest hematological cancer. Despite the enormous innovation on MM treatment in the last decades, still 48% of patients die within 5 years after diagnosis. MM diagnosis and therapeutic strategy mainly rely on direct bone marrow (BM) assessment. Given the MM heterogeneity, BM biopsies do not accurately reflect the whole disease status, hampering accurate disease prognosis. Moreover, biopsies are painful and invasive procedures, highlighting the need for non-invasive and more accurate source of biomarkers. Liquid biopsies are promising sources of biomarkers that may overcome these limitations. Peripheral blood carries circulating myeloma components that are being extensively explored since the last few years as an alternative to BM aspirates. These include circulating tumor cells (CTC), cell-free DNA (cfDNA), and extracellular vesicles containing miRNA and proteins. The current review summarizes scientific evidence establishing BM as a gold standard for the diagnosis, prognosis, and evaluation of minimal residual disease. We discuss the last advances regarding cfDNA and CTC biomarkers from peripheral blood in patients with MM as well as the statistical validations. This paper addresses the technological hurdles associated with liquid biopsies and examines the missing steps for their inclusion into the clinical practice.
AB - Multiple myeloma (MM) is the second deadliest hematological cancer. Despite the enormous innovation on MM treatment in the last decades, still 48% of patients die within 5 years after diagnosis. MM diagnosis and therapeutic strategy mainly rely on direct bone marrow (BM) assessment. Given the MM heterogeneity, BM biopsies do not accurately reflect the whole disease status, hampering accurate disease prognosis. Moreover, biopsies are painful and invasive procedures, highlighting the need for non-invasive and more accurate source of biomarkers. Liquid biopsies are promising sources of biomarkers that may overcome these limitations. Peripheral blood carries circulating myeloma components that are being extensively explored since the last few years as an alternative to BM aspirates. These include circulating tumor cells (CTC), cell-free DNA (cfDNA), and extracellular vesicles containing miRNA and proteins. The current review summarizes scientific evidence establishing BM as a gold standard for the diagnosis, prognosis, and evaluation of minimal residual disease. We discuss the last advances regarding cfDNA and CTC biomarkers from peripheral blood in patients with MM as well as the statistical validations. This paper addresses the technological hurdles associated with liquid biopsies and examines the missing steps for their inclusion into the clinical practice.
KW - biomarker validation
KW - cell-free DNA
KW - circulating tumor plasma cell
KW - diagnosis
KW - liquid biopsies
KW - minimal residual disease
KW - multiple myeloma
KW - prognosis
KW - statistical assessment
UR - http://www.scopus.com/inward/record.url?scp=85177730452&partnerID=8YFLogxK
U2 - 10.3390/hemato3010006
DO - 10.3390/hemato3010006
M3 - Review article
AN - SCOPUS:85177730452
VL - 3
SP - 63
EP - 81
JO - Hemato
JF - Hemato
IS - 1
ER -