- Non-small cell lung cancers (NSCLC)
account for nearly 80 percent of lung cancers.
- Many treatment options are available
including highly targeted therapies depending on the type of genetic
mutation occurring in a particular patient.
- Scientists have developed a blood
test that can identify these mutations in about three days and help
initiate precise treatment without wasting precious time.
blood based test that identifies the
genetic mutations occurring in NSCLC patients in approximately 3 days
result in faster initiation of highly individualized
therapy with better outcomes feel the team of scientists at Biodesix Inc who
invented this test.
Aim of the Research
developers of this novel test aim to provide
doctors and patients with a rapid yet accurate
to reveal specific mutations that occur
in different patients so that
- Precise and targeted treatment can
be delivered to these patients soon after diagnosis.
- Test can be performed in the
community setting where there is otherwise no access to specialized
- Results are available rapidly
and customized treatment to suit the patient can be initiated much faster.
- The test can be used to monitor
response to therapy and to identify recurrence.
- Patient outcomes will be better.
study is critical because it is the first to demonstrate the uptake of
blood-based testing for actionable mutations in the non-hospital (community)
setting. Physicians and patients in a community setting may not have easy
access to a large hospital or other diagnosis/treatment facility. This assay
provides results within 72 hours from sample receipt," explained Gary A.
Pestano, PhD, Vice President of Development and Operations of Biodesix, Inc., a
co-inventor of the test.
Methods and Findings of the Study
developers of the test analyzed more
than 1600 blood samples
from patients mostly drawn from the community
method used to identify the mutations is based on the partitioning of DNA into droplets
in order to identify specific
circulating tumor DNA mutations and RNA variants in whole blood.
‘New rapid blood based test will be a boon to doctors and patients in the community setting and revolutionize targeted therapy of non-small cell lung cancer.’
percentage of various mutations that were identified included the following:
- EGFR sensitizing mutations - 10.5%
- EGFR resistant mutations - 18.8%
- KRAS mutations - 13.2%
- ALK mutations - 2%
tests were highly sensitive (>80%)
(100%) for detecting the various mutations. The results were
mostly the same when matched with tissue based results obtained by histological
results were available within 72 hours
of drawing blood, while tissue based methods take a few weeks, thereby delaying
Mutations In NSCLC That
Are Responsive to Personalized Treatment
various mutations in non-small cell lung carcinoma
that can be targeted
during treatment include mutations of epidermal growth factor receptor (EGFR) mutations
, EGFR T790M mutation
and anaplastic lymphoma kinase (ALK)
mutations are referred to as actionable
. An actionable mutation is critical to the growth and spread of
the tumor. By targeting these mutations
using specific inhibitors, patient
be markedly improved
both in terms of
reducing severity of the disease as well as prolonging survival.
Drugs that are effective
in persons with EGFR
mutations include tyrosine kinase
(TKIs), such as Erlotinib or Gefitinib,
while patients with the EGFR T790M mutation are relatively resistant to these
drugs. On the other hand, patients with ALK
do not respond to EGFR-TKIs, but are responsive to other targeted therapies (such as Ceretinib).
described assay can detect actionable mutations in patients diagnosed with
earlier stages of NSCLC, thereby improving clinical outcomes," remarked
conclude, not only does this test help in patient selection, it can also be
used to monitor response to therapy, presence of residual disease, identify
recurrence of the disease and development of therapy resistant cancer
cells more rapidly than conventional tissue based methods.
icing on the cake is that the facility for performing these tests can be
established in the community setting thus saving precious time otherwise spent
in traveling to specialist centers, and waiting
for the time consuming tissue based results.
the words of first author Hestia Mellert, PhD, Director of Molecular
Development at Biodesix, Inc. "Physicians in remote locations may now have
greater and more rapid access to this critical patient information. These data
highlight the adoption of mutation testing by the lung cancer community and
demonstrate the utility of a centralized laboratory for the evaluation of
actionable mutations from blood."
- Targeted Therapy Drugs for Non-Small Cell Lung Cancer - (https://www.cancer.org/cancer/non-small-cell-lung-cancer/treating/targeted-therapies.html)