The development of sensitive and non-invasive
‘‘liquid biopsies’’ presents new opportunities for
longitudinal monitoring of tumor dissemination and
clonal evolution. The number of circulating tumor
cells (CTCs) is prognostic in multiple myeloma
(MM), but there is little information on their genetic
features. Here, we have analyzed the genomic landscape
of CTCs from 29 MM patients, including eight
cases with matched/paired bone marrow (BM) tumor
cells. Our results show that 100% of clonal mutations
in patient BM were detected in CTCs and that 99% of
clonal mutations in CTCs were present in BM MM.
These include typical driver mutations in MM such
as in KRAS, NRAS, or BRAF. These data suggest
that BM and CTC samples have similar clonal structures,
as discordances between the two were
restricted to subclonal mutations. Accordingly, our
results pave the way for potentially less invasive
mutation screening of MM patients through characterization
of CTCs