Elephants and Tea - AML/ALL Special Edition - 18

Care That's On Your Side
MOLECULAR PROFILING
From Testing to Treatment
WHAT TO KNOW ABOUT TARGETED THERAPIES
BY JONATHAN DEWEY
very treatable. In all cases, the key to getting
treatment begins with comprehensive biomarker
testing and understanding the type
of tumor mutation you have.
INHERITED VERSUS ACQUIRED
MUTATIONS
A lot of biomarker testing focuses on DNA;
specifically, any sort of genetic mutation that
may be causing your cancer to grow. There
are two basic types of genetic mutations that
can lead to cancer. The least common form
is an inherited mutation, which accounts for
around 5% to 20% of all cancers. These mutations
occur in a sperm or egg cell and pass
directly from a parent to a child at the time of
conception. As a baby develops, the mutation
from the initial sperm or egg cell is copied into
every cell within the body. Germline testing
can reveal important genetic variations that a
person was born with using a simple blood or
saliva sample.
Acquired mutations are far more common.
I
18
n superhero movies, gene mutations
often serve as the pivotal plot point in
the hero's journey. They turn nerdy
teenagers into ones with Spidey senses
and give some the ability to move metal
with their minds. Exposure to radiation or a
lab accident gifts you with phenomenal powers
that can transform an ordinary human into a
superhuman. Learning you have a gene mutation
when you are a cancer patient won't make
you a superhero, but in an era of targeted therapies
and personalized medicine, it could serve
as the pivotal point in your treatment journey
and expand what options are available to you.
LET'S GET SOME VOCAB OUT OF
THE WAY
Targeted therapies are a type of cancer treatment
that seek out specific genes and proteins
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AML AND ALL ISSUE 2022
that control how cancer cells grow, divide, and
spread. No targeted therapy can be prescribed
without first testing for the specific biomarker
the therapy would target. Cancer biomarkers
are biological markers produced by the body or
tumor in a person with cancer. Biomarker testing
helps a clinician identify and characterize
important alterations in the tumor. Examples
of a biomarker can be unexpected changes in
the DNA, RNA, protein, or metabolic profile
that are specific to the tumor. These profiles
can easily be added to the diagnostic evaluation
when a tumor is identified.
How genetic changes affect cancer development
is a very active area of research, which
has led to improvements in early detection,
risk reduction, and the use of targeted therapies.
The science is moving quickly, and
some acquired gene mutations have become
They occur from damage to genes in a particular
cell during a person's life as well as
replication errors, or sometimes just plain old
bad luck. This could occur in a lung or colon
cell, which then goes on to divide and form
a cancerous tumor. Cancers that are caused
by these types of mutations are also called
sporadic cancers and cannot be inherited or
passed down from parent to child. Factors
that cause these mutations include tobacco
use, ultraviolet radiation, viruses, age, or
sometimes bad luck.
TEST TO TREAT
When it comes to acquired mutations, the type
of mutation you have is important to understand
as it influences what targeted therapies
are available to you.
New treatments have recently become
available for mutations in genes encoding
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Elephants and Tea - AML/ALL Special Edition

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