Blood, Urine and Genetic Cancer Tests

Cancer Tumor Markers

Blood or urine tests:

Tumor markers can be made by cancer cells or by other cells of the body in response to cancer or inflammation. Tumor markers can be measured with a simple blood or urine test.  Having an elevated level of a tumor marker does not mean that someone has cancer. Noncancerous conditions can sometimes cause an increase in the level of a tumor marker.  In addition, not everyone with a known cancer will have a high level of a tumor marker associated with that cancer. Therefore, measurements of tumor markers are usually combined with the results of other tests, such as biopsies or imaging, to diagnose cancer.

Tumor markers used with other tests can help diagnose cancer, predict prognosis after diagnosis, and help with treatment decisions.  Tumor markers are most often used to test response to cancer treatment or to monitor possible cancer recurrence.  In regards to treatment, a decrease in a tumor marker may mean that the cancer is responding to the treatment. If there is no change or the tumor marker level gets higher, this may mean that the treatment is not working or that the cancer has returned. As with the initial diagnosis, the tumor marker results are combined with imaging tests, physical exam, and physical symptoms.

Common Tumor Marker Tests:

• AFP (alpha-fetoprotein): generally used for cancers of the ovaries or testes, and some liver cancers.  Generally levels >400 IU/ml indicate cancer.
• B2M (beto-2-microglobulin): used for multiple myeloma, chronic lymphocytic leukemia (CLL), and some other lymphomas.
• Bence Jones Proteins: urine test for multiple myeloma and chronic lymphocytic leukemia (CLL).
• BTA (bladder tumor antigen): urine test for bladder, kidney, ureter cancer.
• Carcinoembryonic antigen (CEA) level: The tumor marker most often used in colorectal cancer.  Also, breast, lung, gastric, pancreatic, bladder, kidney, thyroid, head & neck, cervical, ovarian, liver, lymphoma, melanoma. Normal levels <5.0.  False positives may be seen with CEA as high as 35 ng/ml.  >100 may mean metastatic cancer.
• CA15-3: most often used to assess breast cancer, but also bladder, endometrial, gastrointestinal, lung, and ovarian.
• CA 19-9 antigen: used for pancreatic cancer but also associated with lung, ovarian, bladder, stomach, bile duct and colorectal cancers. Several non-cancer conditions may also cause a rise in CA 19-9- bile duct disease, gallstones, liver disease, pancreatitis.  
• CA 125: ovarian cancer, breast, colorectal, uterine, cervical, pancreas, liver and lung cancers. 
• CA 27.29: Breast cancer recurrence or metastasis. Also, colon, gastrin, liver, lung, pancreatic, ovarian, prostate cancers.
• Calcitonin: medullary thyroid cancer.
• Chromogranin A: Neuroendocrine tumors, followed by carcinoid tumor, neuroblastoma, and small cell lung cancer (SCLC).
• Chromosome 18q loss of heterozygosity (18qLOH): Often applied in patients with stage II or III colorectal cancer.
• Cytokeratin Fragment 21-1: gastrointestinal, gynecological, lung and urologic cancers.
• HCG (human chorionic gonadotrophin): germ cell cancer, testicular, gestational trophoblastic neoplasia cancers. 
• 5-HIAA (5-hydroxy-Indol Acetic Acid): 24-hour urine collection. Carcinoid tumors.
• LDH (lactic dehydrogenase): lymphoma, leukemia (acute), melanoma, seminoma.
• NSE (neuron-specific enolase): small cell lung cancer (SCLC) and neuroblastoma.
• NMP 22: urine test for bladder cancer.
• PAP (prostatic acid phosphatase): metastatic prostate cancer, myeloma, lung cancer and osteogenic sarcoma.
• PSA (prostate specific antigen): prostate cancer.
• Tg (thyroglobulin): thyroid cancer.
• HVA (homovanillic acid): 24-hour urine collection for neuroblastoma.
• VMA (vanillylmandelic acid): 24-hour urine collection for neuroblastoma, pheochromocytoma, ganglioneuroma, rhabdomyosarcoma.

Molecular Tissue Tests:  

If cancer is advanced, the cancer cells will probably be tested for specific genetic and protein changes that might help determine if targeted therapy drugs could be options for treatment. 

• BRAF mutations: generally common with melanoma but may present in colon cancer and non-small cell lung cancer (NSCLC) and other tumor types.  This mutation may respond best to targeted therapy with or without immunotherapy.
• HRAS/KRAS (4a & 4b)/NRAS mutations: RAS mutation is the most common mutation in cancer.  KRAS is more common than NRAS.  KRAS is seen in colorectal, lung adenocarcinomas, pancreatic, urogenital cancers and other cancers. NRAS is most common with colorectal cancer and melanomas. HRAS is most common in head and neck, and urinary tract cancers. Knowing which variation is helpful in determining what biological treatments may work.
• HER2 protein: common in breast cancer.  Also, may be present in adenocarcinoma of the lungs, ovarian, stomach, and uterine cancers. Some forms are present in colorectal, esophageal, gastric, and testicular germ cell cancers.  
• NTRK mutation: first discovered in colorectal adenocarcinoma.  Now seen with other carcinomas, sarcomas, and blood cancers.