«Incredibly, it was positive,» Martensen says — he was among the fortunate few with the well - defined
ALK mutation.
For Martensen, the odds were slim that he had
the ALK mutation that would make Xalkori effective for him.
«It became clear after reading the paper that crizotinib might also work in patients with
the ALK mutation in lung cancer,» Shaw says.
Next came the test to see if Martensen's tumor contained
the ALK mutation, which occurs when a section of DNA in the ALK gene, located on chromosome 2, breaks apart.
Since whole - brain radiation is associated with significant cognitive effects and the use of additional radiation therapy for progression is common in this population, the Yale researchers suspect that patients with
the ALK mutation would benefit from radiation focused on individual metastases.
Not all lung cancers are linked to
ALK mutations, so the drug crizotinib, which inhibits the mutant enzyme, is prescribed only for that small subgroup of lung cancer patients.
Not exact matches
Previous studies of genetic alterations in lymphoma and lung cancer have found that certain genetic
mutations — specifically when part of a gene breaks off and gets fused to another — can inappropriately switch on
ALK, driving cancer cells to grow and divide.
Of the more than 1,600 samples tested, 10.5 % had EGFR sensitizing, 18.8 % EGFR resistance, 13.2 % KRAS, and 2 % EML4 -
ALK (anaplastic lymphoma kinase)
mutations.
«Testing for EGFR
mutations,
ALK rearrangements is cost - effective in NSCLC..»
However, the presence of EGFR
mutations and
ALK rearrangements is low in unselected NSCLC, 9.5 % and 3.9 %, respectively.
The abnormality in
ALK that arises in NSCLC is not, strictly speaking, a
mutation (a change in the sequence of DNA within a gene).
The advent of therapies directed at tumors with
mutations in epidermal growth factor receptor (EGFR), anaplastic lymphoma kinase (
ALK), and B - Raf proto - oncogene (BRAF) genes over the past decade have dramatically changed outcomes, he says.
Testing for the EGFR
mutation and
ALK rearrangements and the use of targeted therapies have given lung cancer patients the chance for survival, along with improved quality of life and time with loved ones.
The NIH and Mass General are at the vanguard of a major effort to identify and treat cancer based on causative gene
mutations like the one found in
ALK.
But the diagnostic test, which checks to see if a patient's tumor carries a
mutation in a gene coding for anaplastic lymphoma kinase, called
ALK, is just $ 250.
This disorder is associated with
mutations in members of the TGF ‐ β receptor superfamily, including bone morphogenetic protein receptor ‐ 2 (BMPR ‐ 2),
Alk ‐ 1, and endoglin.
Nonetheless, low - dose computed tomography screens may change diagnostic prospects in the future, and recently developed therapies targeting tumors harboring
mutations in EGFR or
ALK receptors are showing promise.
Lemmon is collaborating with oncologists at Penn who have sequenced the
ALK gene in nearly 2000 neuroblastoma tumors and found 50 different
mutations.