Diagnostics that not only diagnose cancer, but also help select the appropriate therapy and monitor response are a mainstay in modern oncology, and their use is growing. Precision medicine, identifying genetic markers of disease and designing treatments to exploit these, is the essence of targeted cancer therapy.
The National cancer Institute has an excellent piece that describes the use of tumor markers in cancer diagnosis, treatment, and management – I highly recommend that you read it.
The following is a list of 31 tumor markers tests used routinely in clinical oncology. in many instances, the use of certain cancer drugs is limited to instances when these tests are positive. For example, Xalkori in alk+ lung cancer, Herceptin and Kadcyla in HER-2/neu+ breast cancer, Gleevec in Bcr/Abl+ lymphoma, as well as others.
Ova1 is a panel of 5 different tumor markers to evaluate patients with a pelvic mass (pre-operatively) in order to help to diagnose ovarian cancer. The 5 markers are Apolipoprotein A-1, β2-microglobulin, CA-125 II, Prealbumin, and Transferrin. A single result (score) is provided – the test has a 96% sensitivity and 95% negative predictive value. (Interestingly, CA-125 alone is used to monitor the response of patients receiving chemotherapy for ovarian cancer because CA-125 levels track very well with tumor burden even though CA-125 levels may not be very high in patients with ovarian cancer.)
A number of tumor markers are currently being used for a wide range of cancer types. Although most of these can be tested in laboratories that meet standards set by the Clinical Laboratory Improvement Amendments, some cannot be and may therefore be considered experimental. Tumor markers that are currently in common use are listed below.
1. ALK gene rearrangements
- Cancer types: Non-small cell lung cancer and anaplastic large cell lymphoma
- Tissue analyzed: Tumor
- How used: To help determine treatment and prognosis
2. 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
3. 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
4. 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
- Cancer type: Chronic myeloid leukemia
- Tissue analyzed: Blood and/or bone marrow
- How used: To confirm diagnosis and monitor disease status
- Cancer types: Cutaneous melanoma and colorectal cancer
- Tissue analyzed: Tumor
- How used: To predict response to targeted therapies
7. CA15-3/CA27.29
- Cancer type: Breast cancer
- Tissue analyzed: Blood
- How used: To assess whether treatment is working or disease has recurred
8. 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
9. CA-125
- Cancer type: Ovarian cancer
- Tissue analyzed: Blood
- How used: To help in diagnosis, assessment of response to treatment, and evaluation of recurrence
10. Calcitonin
- Cancer type: Medullary thyroid cancer
- Tissue analyzed: Blood
- How used: To aid in diagnosis, check whether treatment is working, and assess recurrence
11. 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 recurrence and assess response to treatment
12. CD20
- Cancer type: Non-Hodgkin lymphoma
- Tissue analyzed: Blood
- How used: To determine whether treatment with a targeted therapy is appropriate
13. Chromogranin A (CgA)
- Cancer type: Neuroendocrine tumors
- Tissue analyzed: Blood
- How used: To help in diagnosis, assessment of treatment response, and evaluation of recurrence
14. Chromosomes 3, 7, 17, and 9p21
- Cancer type: Bladder cancer
- Tissue analyzed: Urine
- How used: To help in monitoring for tumor recurrence
15. Cytokeratin fragments 21-1
- Cancer type: Lung cancer
- Tissue analyzed: Blood
- How used: To help in monitoring for recurrence
16. EGFR mutation analysis
- Cancer type: Non-small cell lung cancer
- Tissue analyzed: Tumor
- How used: To help determine treatment and prognosis
17. 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
18. Fibrin/fibrinogen
- Cancer type: Bladder cancer
- Tissue analyzed: Urine
- How used: To monitor progression and response to treatment
19. HE4
- Cancer type: Ovarian cancer
- Tissue analyzed: Blood
- How used: To assess disease progression and monitor for recurrence
20. HER2/neu
- Cancer types: Breast cancer, gastric cancer, and esophageal cancer
- Tissue analyzed: Tumor
- How used: To determine whether treatment with trastuzumab is appropriate
21. 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
22. KIT
- Cancer types: Gastrointestinal stromal tumor and mucosal melanoma
- Tissue analyzed: Tumor
- How used: To help in diagnosing and determining treatment
23. 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
- Cancer type: Germ cell tumors
- Tissue analyzed: Blood
- How used: To assess stage, prognosis, and response to treatment
25. Nuclear matrix protein 22
- Cancer type: Bladder cancer
- Tissue analyzed: Urine
- How used: To monitor response to treatment
26. 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
27. Thyroglobulin
- Cancer type: Thyroid cancer
- Tissue analyzed: Tumor
- How used: To evaluate response to treatment and look for recurrence
28. 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
29. 5-Protein signature (Ova1)
- Cancer type: Ovarian cancer
- Tissue analyzed: Blood
- How used: To pre-operatively assess pelvic mass for suspected ovarian cancer
30. 21-Gene signature (Oncotype DX)
- Cancer type: Breast cancer
- Tissue analyzed: Tumor
- How used: To evaluate risk of recurrence
31. 70-Gene signature (Mammaprint)
- Cancer type: Breast cancer
- Tissue analyzed: Tumor
- How used: To evaluate risk of recurrence