Gene Mutation Found in One of Four Cases of Deadly Brain
WEDNESDAY, Dec. 22 (HealthDay News) -- A gene mutation that is
present in one of every four patients with glioblastoma brain
cancer has been identified by researchers.
The mutation -- a gene deletion known as NFKBIA -- contributes
to tumor development, promotes resistance to treatment and
significantly worsens the chances of survival of patients with
glioblastoma, the most common and deadly type of adult brain
cancer, senior author Dr. Griffith Harsh, a professor of
neurosurgery at the Stanford University School of Medicine, said in
a Stanford news release.
For this study, researchers analyzed several hundred tumor
samples collected from glioblastoma patients and found NFKBIA
deletions in 25 percent of the samples.
The study, which appears online Dec. 22 in the
New England Journal of Medicine, is the first to link the NFKBIA deletion with glioblastoma.
Previous research has found that defects in NFKBIA -- normally
present on chromosome 14 -- are linked with a wide range of
cancers, including melanoma, multiple myeloma, Hodgkin's lymphoma,
and breast, lung and colon cancers.
It was already known that a genetic defect in the coding for
epidermal growth factor receptor (EGFR), a cell-surface receptor
for a hormone known as epidermal growth factor, plays a role in
about one-third of glioblastoma cases. In these cases, there are
either too many copies of EGFR or its receptor is stuck in the "on"
position, so it sends out messages for cells to multiply
continuously. This can spark the development of tumors.
Patients with NFKBIA or EGFR abnormalities have significantly
shorter survival times than glioblastoma patients with tumors that
have neither defect, the researchers noted.
The discovery may aid the development of targeted therapies. "If
we can determine that a patient's glioblastoma has the NFKBIA
deletion, we can target that tumor for treatment" with drugs that
take the gene deletion into account, according to study principal
investigator Dr. Markus Bredel. Background material for the study
notes that some drugs, such as bortezomib, which now treat other
cancers, may even have that capability, and an early-stage clinical
trial using bortezomib for glioblastoma is currently taking place
The U.S. National Cancer Institute has more about
adult brain tumors.
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