Cancer Medicine,
Journal Year:
2025,
Volume and Issue:
14(1)
Published: Jan. 1, 2025
ABSTRACT
Background
Multi‐cancer
early
detection
(MCED)
through
a
single
blood
test
significantly
advances
cancer
diagnosis.
However,
most
MCED
tests
rely
on
type
of
biomarkers,
leading
to
limited
sensitivity,
particularly
for
early‐stage
cancers.
We
previously
developed
SPOT‐MAS,
multimodal
ctDNA‐based
assay
analyzing
methylation
and
fragmentomic
profiles
detect
five
common
Despite
its
potential,
SPOT‐MAS
exhibited
moderate
sensitivities
This
study
investigated
whether
integrating
hotspot
mutations
into
could
enhance
rates.
Method
A
targeted
amplicon
sequencing
approach
was
profile
700
in
cell‐free
DNA
integrated
the
assay,
creating
single‐blood
draw
workflow.
workflow,
namely
Plus
retrospectively
validated
cohort
255
non‐metastatic
patients
(breast,
colorectal,
gastric,
liver,
lung)
304
healthy
individuals.
Results
Hotspot
were
detected
131
(51.4%)
patients,
with
highest
rates
liver
(96.5%),
followed
by
colorectal
(59.3%)
lung
(53.7%).
Lower
found
cancers
low
tumor
mutational
burden,
such
as
breast
(31.3%)
gastric
(41.9%)
In
contrast,
demonstrated
higher
these
(51.6%
62.9%
gastric).
The
combination
predictions
improved
detection,
achieving
an
overall
sensitivity
78.5%
at
specificity
97.7%.
Enhanced
observed
(81.36%)
(82.9%).
Conclusion
integration
genetic
epigenetic
alterations
enhances
various
Further
validation
larger
cohorts
is
necessary
support
broader
clinical
applications.
BMC Medicine,
Journal Year:
2025,
Volume and Issue:
23(1)
Published: Feb. 14, 2025
Non-invasive
multi-cancer
early
detection
(MCED)
tests
have
shown
promise
in
enhancing
cancer
detection.
However,
their
clinical
utility
across
diverse
populations
remains
underexplored,
limiting
routine
implementation.
This
study
aims
to
validate
the
of
a
multimodal
non-invasive
circulating
tumor
DNA
(ctDNA)-based
MCED
test,
SPOT-MAS
(Screening
for
Presence
Of
Tumor
by
Methylation
And
Size).
We
conducted
multicenter
prospective
study,
K-DETEK
(ClinicalTrials.gov
identifier:
NCT05227261),
involving
9057
asymptomatic
individuals
aged
40
years
or
older
75
major
hospitals
and
one
research
institute
Vietnam.
Participants
were
followed
12
months.
9024
eligible
participants,
43
(0.48%)
tested
positive
ctDNA.
Among
these,
17
confirmed
with
malignant
lesions
various
primary
organs
through
standard-of-care
(SOC)
imaging
biopsy,
9
cases
matching
our
tissue
origin
(TOO)
predictions.
resulted
predictive
value
39.53%
(95%CI
26.37–54.42)
TOO
accuracy
52.94%
30.96–73.83).
8981
participants
(99.52%)
who
negative,
8974
cancer-free
during
12-month
period
after
testing,
yielding
negative
99.92%
(95%
CI
99.84–99.96).
The
test
demonstrated
an
overall
sensitivity
70.83%
50.83–85.09)
specificity
99.71%
99.58–99.80)
detecting
types,
including
those
without
SOC
screening
options.
presents
validation
lower
middle-income
country,
demonstrating
potential
Our
findings
indicate
that
could
be
valuable
additions
national
programs,
particularly
regions
where
such
initiatives
are
currently
limited.
ClinicalTrials.gov
ID:
NCT05227261.
Date
registration:
07/02/2022.
World Journal of Gastroenterology,
Journal Year:
2025,
Volume and Issue:
31(11)
Published: March 12, 2025
Cholangiocarcinoma
(CCA)
is
a
highly
aggressive
and
heterogeneous
malignancy
arising
from
the
epithelial
cells
of
biliary
tract.
The
limitations
current
methods
in
diagnosis
CCA
highlight
urgent
need
for
new,
accurate
tools
early
cancer
detection,
better
prognostication
patient
monitoring.
Liquid
biopsy
(LB)
modern
non-invasive
technique
comprising
diverse
group
methodologies
aiming
to
detect
tumour
biomarkers
body
fluids.
These
include
circulating
cells,
cell-free
DNA,
RNA
extracellular
vesicles.
aim
this
review
explore
potential
future
applications
LB
management,
with
focus
on
diagnosis,
We
examine
both
its
significant
inevitable
associated
technology.
conclude
that
holds
considerable
promise,
but
further
research
necessary
fully
integrate
it
into
precision
oncology
CCA.
Canadian oncology today.,
Journal Year:
2025,
Volume and Issue:
unknown
Published: April 11, 2025
Breast
cancer
remains
the
most
common
among
women
globally,
with
significant
morbidity
and
mortality.
Current
treatment
for
breast
cancer,
both
in
early
stage
metastatic
setting,
is
based
on
a
tumour
biopsy
immunohistochemical
detection
of
estrogen
receptor
(ER),
progesterone
(PR),
human
epidermal
growth
factor
2
(HER2)
expression.
Though
substantial
research
has
been
undertaken
over
years
to
establish
new
prognostic
predictive
biomarkers
have
not
demonstrated
clinical
utility.
Circulating
DNA
(ctDNA)
increasingly
used
across
various
types
precision
medicine.
In
this
article,
we
discuss
current
roles
ctDNA
prognosis
its
utility
decision-making
early-
advanced-stage
settings.
Journal of Translational Medicine,
Journal Year:
2025,
Volume and Issue:
23(1)
Published: April 23, 2025
Breast
cancer
remains
one
of
the
most
common
cancers
in
women
worldwide.
Early
detection
is
critical
for
improving
patient
outcomes,
yet
current
screening
methods
have
limitations.
Therefore,
there
a
pressing
need
more
sensitive
and
specific
approaches
to
detect
breast
its
earliest
stages.
Liquid
biopsy
has
emerged
as
promising
non-invasive
method
early
management.
DNA
methylation,
an
epigenetic
alteration
that
often
precedes
genetic
changes,
been
observed
precancerous
or
stages,
making
it
valuable
biomarker.
This
review
explores
role
methylation
potential
developing
blood-based
tests.
We
discuss
advancements
methods,
recent
discoveries
biomarkers
from
both
single-omics
multi-omics
integration
studies,
machine
learning
enhancing
diagnostic
accuracy.
Challenges
future
directions
are
also
addressed.
Although
challenges
remain,
advances
continue
enhance
clinical
methylation-based
biomarkers.
Ongoing
research
crucial
further
refine
these
improve
outcomes.
