DNA methylation in human diseases
Heliyon,
Год журнала:
2024,
Номер
10(11), С. e32366 - e32366
Опубликована: Июнь 1, 2024
Aberrant
epigenetic
modifications,
particularly
DNA
methylation,
play
a
critical
role
in
the
pathogenesis
and
progression
of
human
disease.
The
current
review
aims
to
reveal
aberrant
methylation
diseases
discuss
original
data
obtained
from
international
research
laboratories
on
this
topic.
In
review,
we
mainly
summarize
studies
exploring
as
diagnostic
prognostic
biomarkers
broad
range
diseases,
including
monogenic
epigenetics,
autoimmunity,
metabolic
disorders,
hematologic
neoplasms,
solid
tumors.
last
section
provides
general
overview
possibility
machinery
perspective
pharmaceutic
approaches.
conclusion,
study
is
phenomenal
intersection
that
each
its
ways
can
mysteries
various
introduce
new
biomarkers,
propose
patient-tailored
therapeutic
approach
for
diseases.
Язык: Английский
Head and neck cancer: pathogenesis and targeted therapy
MedComm,
Год журнала:
2024,
Номер
5(9)
Опубликована: Авг. 21, 2024
Head
and
neck
cancer
(HNC)
is
a
highly
aggressive
type
of
tumor
characterized
by
delayed
diagnosis,
recurrence,
metastasis,
relapse,
drug
resistance.
The
occurrence
HNC
were
associated
with
smoking,
alcohol
abuse
(or
both),
human
papillomavirus
infection,
complex
genetic
epigenetic
predisposition.
Currently,
surgery
radiotherapy
are
the
standard
treatments
for
most
patients
early-stage
HNC.
For
recurrent
or
metastatic
(R/M)
HNC,
first-line
treatment
platinum-based
chemotherapy
combined
antiepidermal
growth
factor
receptor
cetuximab,
when
resurgery
radiation
therapy
not
an
option.
However,
curing
remains
challenging,
especially
in
cases
metastasis.
In
this
review,
we
summarize
pathogenesis
including
changes,
abnormal
signaling
pathways,
immune
regulation
mechanisms,
along
all
potential
therapeutic
strategies
such
as
molecular
targeted
therapy,
immunotherapy,
gene
modifications,
combination
therapies.
Recent
preclinical
clinical
studies
that
may
offer
future
research
on
also
discussed.
Additionally,
new
targets
methods,
antibody-drug
conjugates,
photodynamic
radionuclide
mRNA
vaccines,
have
shown
promising
results
trials,
offering
prospects
Язык: Английский
Non-invasive diagnosis of vulvar dysplasia using cervical methylation markers—a case control study
BMC Medicine,
Год журнала:
2025,
Номер
23(1)
Опубликована: Фев. 28, 2025
Abstract
Background
Diagnostic
screenings
for
vulvar
squamous
intraepithelial
lesions
(VSIL)
are
limited
and
without
information
on
disease
trends.
A
panel
of
six
methylation
markers
(ASTN1,
DLX1,
ITGA4,
RXFP3,
SOX17,
ZNF671;
GynTect®
assay)
has
shown
promise
in
diagnosing
cervical
neoplasia
(CIN).
Given
the
similarities
between
carcinogenesis
cervix
vulva,
this
study
aimed
to
investigate
suitability
these
lesions.
Methods
One
hundred
twenty-one
FFPE
samples
237
cell
smears
with
different
VSIL
grades,
HPV
status,
or
lichen
sclerosus
planus
were
tested.
Additionally,
dysplasia-free
from
patients
dysplasia
analyzed.
The
expression
DNA
methyltransferases
(DNMTs)
was
measured.
Results
demonstrated
high
specificity
smears,
sole
5.45%
testing
positive.
Yet,
75.00%
carcinoma
appear
positive
kit,
similar
VHSIL
(VIN
III)
77.78%.
In
samples,
tumor
microenvironment
high-grade
showed
43.75%
positivity.
positivity
rates
76.92%,
64.71%,
80.49%,
respectively.
DNMT3a
highest
VLSIL
I)
while
DNMT1
only
expressed
samples.
Lichen
sclerosis
a
false
rate
45.45%
54.54%
dVIN.
Cervical
HSIL
associated
significantly
higher
number
results
kit
than
dysplasia.
Conclusions
findings
suggest
that
comprising
may
be
suitable
detecting
neoplasia,
as
they
exhibit
sensitivity.
Nonetheless,
adjustments
needed
comparable
specificity.
should
considered
result
interpretation,
used
caution
lichen.
Moreover,
we
observed
changes
an
early
event
VLSIL.
Surprisingly,
pattern
not
local
presumed.
SIL
led
changed
vulva.
Patients
monitored
regularly
all
genital
This
sheds
new
light
epigenetics
cancer.
Язык: Английский
Research advances in signaling pathways related to the malignant progression of HSIL to invasive cervical cancer: A review
Biomedicine & Pharmacotherapy,
Год журнала:
2024,
Номер
180, С. 117483 - 117483
Опубликована: Сен. 30, 2024
Язык: Английский
Diagnostic Performance of Host and Viral DNA Methylation Analysis in the Identification of Anal Intraepithelial Neoplasia and Cancer: Systematic Review and Meta-Analysis
Healthcare,
Год журнала:
2024,
Номер
12(19), С. 1951 - 1951
Опубликована: Сен. 30, 2024
Introduction:
DNA
methylation-based
biomarkers
have
been
investigated
as
useful
tools
in
the
carcinogenesis
process,
including
triage
of
HPV-associated
cancers.
In
this
context,
we
conducted
a
systematic
review
and
meta-analysis
focused
on
evaluating
changes
level
methylation
cases
pre-cancerous
(i.e.,
anal
intraepithelial
neoplasia,
AIN-1,
-2.,
-3)
cancerous
squamous
cell
carcinoma,
SCC)
lesions.
Methods:
A
research
PubMed,
Scopus,
Web
Science
databases
was
carried
out,
following
PRISMA
2020
protocol,
using
keywords:
“anal
cancer”,
neoplasia”,
“methylation”,
“epigenetic”.
All
observational
studies
that
reported
by
grade
lesions
for
different
target
genes
were
included.
The
QUADAS-2
tool
used
to
assess
studies’
quality,
whereas
pooled
prevalence,
sensitivity,
specificity,
diagnostic
odds
ratio
(DOR)
employed
verify
accuracy
test
detection
high-grade
Results:
Eight
met
inclusion
criteria,
involving
total
1555
clinical
samples.
prevalence
methylation-positive
samples
histological
grading
27%,
45%,
54%,
98%
AIN1,
AIN2,
AIN3,
SCC,
respectively.
Similar
results
observed
DOR,
with
higher
ORs
more
severe
AUC
(95%CI)
diagnosis
≥AIN2
0.68
(0.63–0.73).
Conclusions:
present
support
introduction
subjects
low-grade
monitoring
treatment
outcomes.
Standardized
protocols
prospective
study
design
are
needed
implement
tests
practice.
Язык: Английский