UNIT TWO

Tumor Markers
Abdihakim Mohamed
BSc(MLT), MPH MSc HSM

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Introduction
 Tumor markers are substances that are produced
by cancer or by other cells of the body in response
to cancer or certain benign (noncancerous)
conditions.
 Most tumor markers are made by normal cells as
well as by cancer cells; however, they are
produced at much higher levels in cancerous
conditions.

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 These substances can be found in the blood,
urine, stool, tumor tissue, or other tissues or
bodily fluids of some patients with cancer.
 Most tumor markers are proteins.
 However, more recently, patterns of
gene expression and changes to DNA have
also begun to be used as tumor markers.
 Markers of the latter type are assessed in
tumor tissue specifically.

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 Thus far, more than 20 different tumor
markers have been characterized and are in
clinical use.
 Some are associated with only one type of
cancer, whereas others are associated with
two or more cancer types.
 There is no “universal” tumor marker that
can detect any type of cancer.
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Limitation of Tumor markers
 Sometimes, noncancerous conditions can
cause the levels of certain tumor markers to
increase.
 In addition, not everyone with a particular
type of cancer will have a higher level of a
tumor marker associated with that cancer.
 Moreover, tumor markers have not been
identified for every type of cancer.
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Current use in Medicine
 Are used to help detect, diagnose, and manage
some types of cancer.
 Although an elevated level of a tumor marker may
suggest the presence of cancer, this alone is not
enough to diagnose cancer.
 Therefore, measurements of tumor markers are
usually combined with other tests, such as
biopsies, to diagnose cancer.

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 Tumor marker levels may be measured before
treatment to help doctors plan the appropriate
therapy.
 In some types of cancer, the level of a tumor
marker reflects the stage (extent) of the disease
and/or the patient’s prognosis (likely outcome or
course of disease).
 Tumor markers may also be measured periodically
during cancer therapy.

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 A decrease in the level of a tumor marker or a
return to the marker’s normal level may indicate
that the cancer is responding to treatment, whereas
no change or an increase may indicate that the
cancer is not responding.
 Tumor markers may also be measured after
treatment has ended to check for recurrence (the
return of cancer).

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Common tumor markers

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Common tumor markers ctd…

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Can tumor markers be used in cancer screening?

 Although tumor markers are extremely

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Cont…
 For example, the
prostate-specific antigen (PSA) test, which
measures the level of PSA in the blood, is often
used to screen men for prostate cancer.
 However, an increased PSA level can be caused
by benign prostate conditions as well as by
prostate cancer, and most men with an elevated
PSA level do not have prostate cancer.

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Currently used tumor markers and cancer
types they indicate
 Alpha-fetoprotein (AFP)
– Cancer types: Liver cancer and
germ cell tumors
– Tissue analyzed: Blood
– How used: To help diagnose liver cancer and
follow response to treatment; to assess stage,
prognosis, and response to treatment of germ
cell tumors

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Cont…
 Beta-2-microglobulin (B2M)
– Cancer types: Multiple myeloma,
chronic lymphocytic leukemia, and some
lymphomas
– Tissue analyzed: Blood, urine, or
cerebrospinal fluid
– How used: To determine prognosis and follow
response to treatment

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Cont…
 Beta-human chorionic gonadotropin (Beta-
hCG)
– Cancer types: Choriocarcinoma and testicular
cancer
– Tissue analyzed: Urine or blood
– How used: To assess stage, prognosis, and
response to treatment

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 CA15-3/CA27.29
– Cancer type: Breast cancer
– Tissue analyzed: Blood
– How used: To assess whether treatment is
working or disease has recurred
 CA19-9
– Cancer types: Pancreatic cancer, gallbladder
cancer, bile duct cancer, and gastric cancer
– Tissue analyzed: Blood
– How used: To assess whether treatment is
working
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 CA-125
– Cancer type: Ovarian cancer
– Tissue analyzed: Blood
– How used: To help in diagnosis, assessment of
response to treatment, and evaluation of
recurrence
 Calcitonin
– Cancer type: Medullary thyroid cancer
– Tissue analyzed: Blood
– How used: To aid in diagnosis, check whether
treatment is working, and assess recurrence
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 Carcinoembryonic antigen (CEA)
– Cancer types: Colorectal cancer and breast
cancer
– Tissue analyzed: Blood
– How used: To check whether colorectal cancer
has spread; to look for breast cancer
 CD20
– Cancer type: Non-Hodgkin lymphoma
– Tissue analyzed: Blood
– How used: To determine whether treatment
with a targeted therapy is appropriate
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Con…
 Chromogranin A (CgA)
– Cancer type: Neuroendocrine tumors
– Tissue analyzed: Blood
– How used: To help in diagnosis, assessment of
treatment response, and evaluation of
recurrence

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 BCR-ABL fusion gene
– Cancer type: Chronic myeloid leukemia
– Tissue analyzed: Blood and/or bone marrow
– How used: To confirm diagnosis and monitor
disease status
 BRAF mutation V600E
– Cancer types: Cutaneous melanoma and
colorectal cancer
– Tissue analyzed: Tumor
– How used: To predict response to targeted
therapies
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Cont…
 Chromosomes 3, 7, 17, and 9p21
– Cancer type: Bladder cancer
– Tissue analyzed: Urine
– How used: To help in monitoring for tumor
recurrence

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Cont…
 Cytokeratin fragments 21-1
– Cancer type: Lung cancer
– Tissue analyzed: Blood
– How used: To help in monitoring for recurrence
 EGFR mutation analysis
– Cancer type: Non-small cell lung cancer
– Tissue analyzed: Tumor
– How used: To help determine treatment and
prognosis
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 Estrogen receptor (ER)/progesterone receptor
(PR)
– Cancer type: Breast cancer
– Tissue analyzed: Tumor
– How used: To determine whether treatment with
hormonal therapy (such as tamoxifen) is appropriate
 Fibrin/fibrinogen
– Cancer type: Bladder cancer
– Tissue analyzed: Urine
– How used: To monitor progression and response to
treatment

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 HE4
– Cancer type: Ovarian cancer
– Tissue analyzed: Blood
– How used: To assess disease progression and
monitor for recurrence
 HER2/neu
– Cancer types: Breast cancer, gastric cancer, and
esophageal cancer
– Tissue analyzed: Tumor
– How used: To determine whether treatment
with trastuzumab is appropriate
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 Immunoglobulins
– Cancer types: Multiple myeloma and
Waldenström macroglobulinemia
– Tissue analyzed: Blood and urine
– How used: To help diagnose disease, assess
response to treatment, and look for recurrence
 KIT
– Cancer types: Gastrointestinal stromal tumor and
mucosal melanoma
– Tissue analyzed: Tumor
– How used: To help in diagnosing and determining
treatment
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 KRAS mutation analysis
– Cancer types: Colorectal cancer and non-small
cell lung cancer
– Tissue analyzed: Tumor
– How used: To determine whether treatment with a
particular type of targeted therapy is appropriate
 Lactate dehydrogenase
– Cancer type: Germ cell tumors
– Tissue analyzed: Blood
– How used: To assess stage, prognosis, and
response to treatment
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 Nuclear matrix protein 22
– Cancer type: Bladder cancer
– Tissue analyzed: Urine
– How used: To monitor response to treatment
 Prostate-specific antigen (PSA)
– Cancer type: Prostate cancer
– Tissue analyzed: Blood
– How used: To help in diagnosis, assess response to
treatment, and look for recurrence
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 Thyroglobulin
– Cancer type: Thyroid cancer
– Tissue analyzed: Tumor
– How used: To evaluate response to treatment
and look for recurrence
 Urokinase plasminogen activator (uPA) and
plasminogen activator inhibitor (PAI-1)
– Cancer type: Breast cancer
– Tissue analyzed: Tumor
– How used: To determine aggressiveness of
cancer and guide treatment
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 5-Protein signature (Ova1)
– Cancer type: Ovarian cancer
– Tissue analyzed: Blood
– How used: To pre-operatively assess pelvic
mass for suspected ovarian cancer
 21-Gene signature (Oncotype DX)
– Cancer type: Breast cancer
– Tissue analyzed: Tumor
– How used: To evaluate risk of recurrence

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 70-Gene signature (Mammaprint)
– Cancer type: Breast cancer
– Tissue analyzed: Tumor
– How used: To evaluate risk of recurrence

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