Driver mutation detected in cerebrospinal fluid despite negative liquid biopsy results
Discover Oncology,
Год журнала:
2025,
Номер
16(1)
Опубликована: Фев. 10, 2025
We
report
a
case
where
KRAS
G12V
driver
mutation
was
identified
in
cerebrospinal
fluid
(CSF)
but
not
peripheral
blood
cell-free
DNA
(cfDNA)
patient
with
advanced
lung
adenocarcinoma
and
significant
central
nervous
system
involvement.
A
67-year-old
man
presented
hemoptysis
diagnosed
stage
IVB
TTF-1-positive
brain
bone
metastases.
Standard
chemotherapy
ineffective.
While
cfDNA
analysis
detected
only
RAD21
mutation,
CSF
revealed
the
mutation.
Despite
identification,
no
effective
targeted
therapy
available.
This
highlights
that
may
be
more
suitable
than
for
detecting
mutations
patients
predominant
CNS
lesions.
Язык: Английский
An update on the role of endobronchial ultrasound-guided transbronchial needle aspiration in lung cancer management
Expert Review of Respiratory Medicine,
Год журнала:
2025,
Номер
unknown, С. 1 - 12
Опубликована: Март 30, 2025
Introduction
Accurate
diagnosis
and
staging
are
essential
for
optimizing
lung
cancer
management.
The
9th
edition
of
the
TNM
classification
emphasizes
distinguishing
between
single-station
multi-station
N2
disease,
highlighting
necessity
comprehensive
mediastinal
node
assessment
clinical
staging.
Endobronchial
ultrasound-guided
transbronchial
needle
aspiration
(EBUS-TBNA)
is
a
minimally
invasive
modality
used
nodal
cancer,
offering
diagnostic
yield
comparable
to
that
mediastinoscopy
when
performed
by
experts.
Additionally,
EBUS-TBNA
facilitates
ancillary
testing,
including
next-generation
sequencing
(NGS)-based
biomarker
panels
PD-L1
immunohistochemistry,
which
critical
evaluating
suitability
targeted
therapies
immune
checkpoint
inhibitors.
Notably,
advancements
in
perioperative
management,
such
as
neoadjuvant
adjuvant
with
immunotherapy
agents,
have
improved
outcomes
locally
advanced
diseases.
helps
identify
patients
early-stage
who
candidates
therapy.
Язык: Английский
Driver Mutations and Malignant Pleural Effusion in Non-small Cell Lung Cancer
Research Square (Research Square),
Год журнала:
2025,
Номер
unknown
Опубликована: Апрель 21, 2025
Abstract
Background
Malignant
pleural
effusion
(MPE)
complicates
approximately
50%
of
non-small
cell
lung
cancer
(NSCLC)
cases,
signaling
advanced
disease
and
poor
patient
outcomes.
While
driver
mutations
including
programmed
death-ligand
1
(PD-L1),
anaplastic
lymphoma
kinase
(ALK),
proto-oncogene
tyrosine-protein
kinase-1
(ROS1),
threonine
at
amino
acid
position
790
(T790M)
are
critical
in
NSCLC
progression,
their
relationship
with
MPE
development
remains
inadequately
characterized.
Methods
This
retrospective
cohort
study
examined
130
patients
(52
MPE,
78
without
MPE).
Clinical
characteristics
comprehensive
molecular
profiles
were
analyzed
using
next-generation
sequencing.
Statistical
comparisons
performed,
a
Least
Absolute
Shrinkage
Selection
Operator
(LASSO)
regularized
logistic
regression
model
identified
independent
predictors
MPE.
Model
performance
was
evaluated
receiver
operating
characteristic
(ROC)
analysis.
Results
PD-L1
expression
demonstrated
significant
association
(Odds
ratio
=
2.78,
p
<
0.01),
nearly
tripling
the
likelihood
effusion.
The
presence
ALK,
ROS1,
T790M
(combined
OR
2.41,
0.05)
also
showed
predictive
value
for
formation.
Several
clinical
factors
independently
correlated
age,
heavy
smoking
history
(>
50
pack-years),
right
inferior
lobe
tumor
location
(all
0.05).
robust
an
area
under
curve
0.80.
Conclusions
These
findings
establish
important
associations
between
specific
mutations,
particularly
expression,
patients.
Identifying
these
genetic
may
enhance
risk
stratification
approaches
guide
personalized
treatment
strategies,
especially
those
disease.
Further
prospective
validation
studies
needed
to
confirm
explore
therapeutic
implications.
Язык: Английский
Endobronchial Ultrasonography With Guide Sheath for the Diagnosis of Peripheral Pulmonary Lesions in Japan: A Literature Review
Cureus,
Год журнала:
2024,
Номер
unknown
Опубликована: Март 5, 2024
We
evaluated
the
usefulness
of
endobronchial
ultrasonography
with
guide
sheath
(EBUS-GS)
for
diagnosis
peripheral
pulmonary
lesions
(PPLs)
in
Japan.
searched
PubMed/Medline
database
using
keywords
“EBUS
sheath”
Japanese
studies
on
EBUS-GS
published
between
January
2004
and
August
2023.
included
32
original
articles
that
diagnostic
yield
PPLs.
Case
reports
conference
abstracts
were
excluded
due
to
limited
information
available
quality
assessment.
The
was
73.6%
2996
malignant
lesions,
65.4%
752
ground-glass
nodules,
59.4%
414
benign
61.3%
1114
size
≤2
cm,
75.6%
1246
>2
cm;
it
69.4%
located
upper
lobe
(n=793),
71.9%
middle
lobe/lingula
(n=121),
62.5%
lower
(n=334).
None
patients
experienced
severe
complications.
In
this
review,
is
effective
A
multimodality
approach
needed
further
enhance
its
performance.
Язык: Английский
Diagnosis and treatment of non-small cell lung cancer (NSCLC) harboring MET Ex14 skipping: have we met the desired drug?
Translational Lung Cancer Research,
Год журнала:
2024,
Номер
13(6), С. 1438 - 1443
Опубликована: Июнь 1, 2024
Язык: Английский
A Case of Squamous Cell Carcinoma of MET Exon 14 Skipping Detected in Needle Washing Fluid in the Lung Cancer Compact Panel
Haigan,
Год журнала:
2024,
Номер
64(6), С. 878 - 883
Опубликована: Окт. 20, 2024
背景.肺がんコンパクトパネルはホルマリン固定パラフィン包埋検体に加え,細胞診検体でも複数の遺伝子解析が可能かつ感度の優れたマルチプレックス遺伝子検査として注目されている.症例.83歳女性.X-1年4月に右上葉腫瘤に対して超音波気管支鏡ガイド下針生検(endobronchial
ultrasound-guided
transbronchial
needle
aspiration:EBUS-TBNA)を行い右上葉非小細胞肺癌stage
IIIAと診断した.同時化学放射線療法,durvalumab維持療法を行ったが,X年2月に原発巣が増大し,EBUS-TBNAによる再生検を行って扁平上皮癌と診断した.腫瘍割合が少ないため生検針の洗浄液を肺がんコンパクトパネルに提出し,MET
Exon
14
skipping陽性が判明し,tepotinibを開始した.結論.扁平上皮癌によるMET
skipping陽性は稀だが,洗浄液を肺がんコンパクトパネルに提出し,少ない検体量でも遺伝子異常を検出することができた.
How to Use Panel Tests for Detecting Genetic Mutations Using Bronchoscopy Specimens
Haigan,
Год журнала:
2024,
Номер
64(7), С. 891 - 896
Опубликована: Дек. 20, 2024
Endobronchial
ultrasonography
using
guide
sheath(EBUS-GS)およびendobronchial
ultrasound-guided
transbronchial
needle
aspiration(EBUS-TBNA)は,肺癌診断の精度向上に大きく寄与してきた.2019年に「がん遺伝子パネル検査」が保険適用となりnext
generation
sequencing(NGS)解析に十分な検体を採取するために,各施設で多くの工夫が行われている.ホルマリン固定パラフィン包埋組織あるいは新鮮凍結組織を用いてNGSを行うオンコマイン™Dx
Target
TestマルチCDxおよびAmoyDxⓇ肺癌マルチ遺伝子PCRパネルに加えて,ホルマリン固定パラフィン包埋組織および細胞診検体で高精度なNGS解析が可能な肺がんコンパクトパネルⓇDXマルチコンパニオン診断システムが2023年2月に保険適用となった.患者の背景と全身状態を把握した呼吸器科医が病理医と連携のもと,適切なパネル検査を選択することが重要である.