Cancer Markers 101: What You Need to Know
What are tumor markers?
A tumor marker is any substance in your body that provides information about a cancer. Traditionally, tumor markers refer to proteins that cancer cells make. Noncancerous cells can also make tumor markers in response to a cancer. But a tumor marker can also refer to mutations (changes) or patterns in your DNA.Other names for tumor markers include cancer markers and biomarkers.
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| Credit: Scientific Research 2021 |
What do tumor markers tell you?
Tumor markers — in combination with other tests — help healthcare providers diagnose and treat certain types of cancer. Tumor markers can:
- Indicate the presence of certain types of cancer.
- Help your provider plan treatment.
- Check whether current cancer treatment is working.
- Predict your chance of recovery.
- Monitor for recurrence (return) of certain cancers.
Some tumor markers only give information about one specific type of cancer. Other tumor markers give information about more than one type of cancer.
Where are tumor markers typically found?
There are two main types of tumor markers:
- Circulating tumor markers.
- Tumor tissue markers.
Circulating tumor markers are in:
- Blood.
- Urine (pee).
- Stool (poop).
- Bone marrow.
- Saliva (spit).
To get a sample of your blood, a healthcare provider will run a blood test. If they need a urine, saliva or stool sample, they’ll give you instructions on how to obtain it. To get a sample of your bone marrow, you’ll need a bone marrow biopsy.
Tumor tissue markers are in:
- Tumors (in your body tissues).
A healthcare provider will take a biopsy (small sample) of the affected tissue and send it to a pathology lab for analysis.
Do tumor markers detect all cancers?
No, many cancers don’t have known tumor markers. In these cases, tumor marker testing isn’t an option. When this happens, your healthcare provider may recommend other lab tests or imaging tests, like CT (computed tomography) scans or MRI (magnetic resonance imaging).
What are common cancer tumor markers?
A tumor marker is anything present in or produced by cancer cells or other cells of the body in response to cancer or certain benign (noncancerous) conditions that provides information about a cancer, such as how aggressive it is, whether it can be treated with a targeted therapy, or whether it is responding to treatment. See the Tumor Markers page for more information.Listed below are tumor marker tests that are in common use, mainly to determine treatment or to help make a diagnosis of cancer. This list is not comprehensive; in particular, new tumor markers frequently become available and may not be included.
This list also does not include the many tumor markers that are tested by immunophenotyping and immunohistochemistry to help diagnose cancer and to distinguish between different types of cancer.
Some tumor markers listed below are targets for targeted therapy in multiple cancers but serve as tumor markers for only a subset of cancers. For each test, the main cancer types that it is used for are listed. Some markers may be used for other cancer types that are not listed.
This list also does not include the many tumor markers that are tested by immunophenotyping and immunohistochemistry to help diagnose cancer and to distinguish between different types of cancer.
Some tumor markers listed below are targets for targeted therapy in multiple cancers but serve as tumor markers for only a subset of cancers. For each test, the main cancer types that it is used for are listed. Some markers may be used for other cancer types that are not listed.
ALK gene rearrangements and overexpression
- Cancer types or cancer-like conditions: Non-small cell lung cancer, anaplastic large cell lymphoma, histiocytosi
- What's analyzed: Tumor
- How it's used: To help determine treatment and prognosis
Alpha-fetoprotein(AFP)
- Cancer types: Liver cancer, ovarian cancer, and germ cell tumors
- What's analyzed: Blood
- How it's used: To help diagnose these cancers and follow response to treatment; to assess stage, prognosis, and response to treatment of germ cell tumors
B-cell immunoglobulin gene rearrangement
- Cancer type: B-cell lymphoma
- What's analyzed: Blood, bone marrow, or tumor tissue
- How it's used: To help in diagnosis, to evaluate effectiveness of treatment, and to check for recurrence
BCL2 gene rearrangement
- Cancer types: Lymphomas, leukemias
- What’s analyzed: Blood, bone marrow, or tumor tissue
- How it's used: For diagnosis and planning therapy
BCR-ABL fusion gene (Philadelphia chromosome)
- Cancer types: Chronic myeloid leukemia, acute lymphoblastic leukemia, and acute myelogenous leukemia
- What's analyzed: Blood or bone marrow
- How it's used: To confirm diagnosis, predict response to targeted therapy, help determine treatment, and monitor disease status
Beta-2-microglobulin (B2M)
- Cancer types: Multiple myeloma, chronic lymphocytic leukemia, and some lymphomas
- What's analyzed: Blood, urine, or cerebrospinal fluid
- How it's used: To determine prognosis and follow response to treatment
Beta-human chorionic gonadotropin (Beta-hCG)
- Cancer types: Choriocarcinoma and germ cell tumors
- What's analyzed: Urine or blood
- How it's used: To assess stage, prognosis, and response to treatment
Bladder Tumor Antigen (BTA)
- Cancer types: Bladder cancer and cancer of the kidney or ureter
- What's analyzed: Urine
- How it's used: As surveillance with cytology and cystoscopy of patients already known to have bladder cancer
BRAF V600 mutations
- Cancer types or cancer-like conditions: Thyroid cancer, melanoma, ovarian cancer, Erdheim-Chester disease, Langerhans cell histiocytosis, hairy cell leukemia, colorectal cancer, non-small cell lung cancer, and some other cancer types
- What's analyzed: Tumor
- How it's used: To help determine treatment
BRCA1 and BRCA2 gene mutations
- Cancer types: Breast, ovarian, pancreatic, and prostate cancers
- What's analyzed: Blood and/or tumor
- How it's used: To help determine treatment
CA15-3/CA27.29
- Cancer type: Breast cancer
- What's analyzed: Blood
- How it's used: To assess whether treatment is working or if the cancer has recurred
CA19-9
- Cancer types: Pancreatic, gallbladder, bile duct, and gastric cancers
- What's analyzed: Blood
- How it's used: To assess whether treatment is working
CA-125
- Cancer type: Ovarian cancer
- What's analyzed: Blood
- How it's used: To help in diagnosis, assessment of response to treatment, and evaluation of recurrence
CA 27.29
- Cancer type: Breast cancer
- What's analyzed: Blood
- How it's used: To detect metastasis or recurrence
Calcitonin
- Cancer type: Medullary thyroid cancer
- What's analyzed: Blood
- How it's used: To aid in diagnosis, check whether treatment is working, and assess recurrence
Carcinoembryonic antigen (CEA)
- Cancer types: Colorectal cancer and some other cancers
- What's analyzed: Blood
- How it's used: To check effect of treatment and detect recurrence
CD19
- Cancer types: B-cell lymphomas and leukemias
- What's analyzed: Blood and bone marrow
- How it's used: To help in diagnosis and to help determine treatment
CD20
- Cancer type: Non-Hodgkin lymphoma
- What's analyzed: Blood
- How it's used: To help determine treatment
CD22
- Cancer types: B-cell lymphomas and leukemias
- What's analyzed: Blood and bone marrow
- How it's used: To help in diagnosis and to help determine treatment
CD25
- Cancer type: Non-Hodgkin (T-cell) lymphoma
- What's analyzed: Blood
- How it's used: To help determine treatment
CD30
- Cancer types: Classic Hodgkin lymphoma, B-cell and T-cell lymphomas
- What's analyzed: Tumor
- How it's used: To help determine treatment
CD33
- Cancer type: Acute myeloid leukemia
- What's analyzed: Blood
- How it's used: To help determine treatment
Chromogranin A (CgA)
- Cancer type: Neuroendocrine tumors
- What's analyzed: Blood
- How it's used: To help in diagnosis, assessment of treatment response, and evaluation of recurrence
Chromosome 17p deletion
- Cancer type: Chronic lymphocytic leukemia
- What's analyzed: Blood
- How it's used: To help in diagnosis and to determine treatment
Chromosomes 3, 7, 17, and 9p21
- Cancer type: Bladder cancer
- What's analyzed: Urine
- How it's used: To help in monitoring for tumor recurrence
Circulating tumor cells of epithelial origin (CELLSEARCH)
- Cancer types: Metastatic breast, prostate, and colorectal cancers
- What's analyzed: Blood
- How it's used: To inform clinical decision making, and to assess prognosis
C-kit/CD117
- Cancer types: Gastrointestinal stromal tumor, mucosal melanoma, acute myeloid leukemia, and mast cell disease
- What's analyzed: Tumor, blood, or bone marrow
- How it's used: To help in diagnosis and to help determine treatment
Cyclin D1 (CCND1) gene rearrangement or expression
- Cancer types: Lymphoma, myeloma
- What’s analyzed: Tumor
- How it's used: To help in diagnosis
Cytokeratin fragment 21-1
- Cancer type: Lung cancer
- What's analyzed: Blood
- How it's used: To help in monitoring for recurrence
Des-gamma-carboxy prothrombin (DCP)
- Cancer type: Hepatocellular carcinoma
- What's analyzed: Blood
- How it's used: To monitor the effectiveness of treatment and to detect recurrence
DPD gene mutation
- Cancer types: Breast, colorectal, gastric, and pancreatic cancers
- What's analyzed: Blood
- How it's used: To predict the risk of a toxic reaction to 5-fluorouracil therapy
EGFR
- Cancer types: Non-small cell lung cancer and colorectal cancer
- What's analyzed: Tumor
- How it's used: To help determine treatment and prognosis
ESR1 gene mutation
- Cancer type: Breast cancer
- What's analyzed: Tumor
- How it's used: To help determine treatment
Estrogen receptor (ER)/progesterone receptor (PR)
- Cancer type: Breast cancer
- What's analyzed: Tumor
- How it's used: To help determine treatment
FGFR2 and FGFR3 gene mutations
- Cancer types: Bladder cancer and cholangiocarcinoma
- What's analyzed: Tumor
- How it's used: To help determine treatment
Fibrin/fibrinogen
- Cancer type: Bladder cancer
- What's analyzed: Urine
- How it's used: To monitor progression and response to treatment
5-HIAA
- Cancer type: Carcinoid tumors
- What's analyzed: Urine
- How it's used: To help in diagnosis and to monitor disease
5-Protein signature (OVA1)
- Cancer type: Ovarian cancer
- What's analyzed: Blood
- How it's used: To pre-operatively assess pelvic mass for suspected ovarian cancer
FLT3 gene mutations
- Cancer type: Acute myeloid leukemia
- What's analyzed: Blood
- How it's used: To help determine treatment and prognosis
46-Gene signature (Prolaris)
- Cancer type: Prostate cancer
- What's analyzed: Tumor
- How it's used: To predict the aggressiveness of prostate cancer and to help manage treatment
FoundationOne CDx (F1CDx) genomic test
- Cancer type: Any solid tumor
- What's analyzed: Tumor
- How it's used: As a companion diagnostic test to determine the appropriateness of treatment with specific targeted therapies and for general tumor mutation profiling
FoundationOne Liquid CDx
- Cancer type: Any solid tumor
- What's analyzed: Blood
- How it's used: As a companion diagnostic test to determine the appropriateness of treatment with specific targeted therapies and for general tumor mutation profiling
Gastrin
- Cancer type: Gastrin-producing tumor (gastrinoma)
- What's analyzed: Blood
- How it's used: To help in diagnosis, to monitor the effectiveness of treatment, and to detect recurrence
Guardant360 CDx genomic test
- Cancer type: Any solid tumor
- What's analyzed: Blood
- How it's used: As a companion diagnostic test to determine treatment and for general tumor mutation profiling
HE4
- Cancer type: Ovarian cancer
- What's analyzed: Blood
- How it's used: To plan cancer treatment, assess disease progression, and monitor for recurrence
HER2/neu (ERBB2) gene amplification, mutations, protein overexpression
- Cancer types: Breast, ovarian, bladder, pancreatic, non-small cell lung, gastroesophageal, and stomach cancers
- What's analyzed: Tumor
- How it's used: To help determine treatment
IDH1 and IDH2 gene mutations
- Cancer types: Acute myeloid leukemia, cholangiocarcinoma, and glioma
- What's analyzed: Bone marrow, tissue, or blood
- How it's used: To help determine treatment
Immunoglobulins
- Cancer types: Multiple myeloma and Waldenström macroglobulinemia
- What's analyzed: Blood and urine
- How it's used: To help diagnose disease, assess response to treatment, and look for recurrence
IRF4 gene rearrangement
- Cancer type: Lymphoma
- What’s analyzed: Tumor
- How it's used: To help in diagnosis
JAK2 gene mutation
- Cancer type: Certain types of leukemia
- What's analyzed: Blood and bone marrow
- How it's used: To help in diagnosis
KRAS gene mutation
- Cancer types: Colorectal cancer and non-small cell lung cancer
- What's analyzed: Tumor, plasma
- How it's used: To help determine treatment
Lactate dehydrogenase
- Cancer types: Germ cell tumors, lymphoma, leukemia, melanoma, and neuroblastoma
- What's analyzed: Blood
- How it's used: To assess stage, prognosis, and response to treatment
Microsatellite instability (MSI) and/or mismatch repair deficiency (dMMR)
- Cancer types: Colorectal cancer, endometrial carcinoma, and other solid tumors
- What's analyzed: Tumor
- How it's used: To guide treatment and to identify those at high risk of having inherited certain cancer-predisposing syndromes
MYC gene expression
- Cancer types: Lymphomas, leukemias
- What’s analyzed: Tumor
- How it's used: To help in diagnosis and to help determine treatment
MYD88 gene mutation
- Cancer types: Lymphoma, Waldenström macroglobulinemia
- What’s analyzed: Tumor
- How it's used: To help in diagnosis and to help determine treatment
Myeloperoxidase (MPO)
- Cancer type: Leukemia
- What’s analyzed: Blood
- How it's used: To help in diagnosis
Neuron-specific enolase (NSE)
- Cancer types: Small cell lung cancer and neuroblastoma
- What's analyzed: Blood
- How it's used: To help in diagnosis and to assess response to treatment
NTRK gene fusion
- Cancer type: Any solid tumor
- What’s analyzed: Tumor
- How it's used: To help determine treatment
Nuclear matrix protein 22
- Cancer type: Bladder cancer
- What's analyzed: Urine
- How it's used: To monitor response to treatment
PCA3 mRNA
- Cancer type: Prostate cancer
- What's analyzed: Urine (collected after digital rectal exam)
- How it's used: To determine need for repeat biopsy after negative biopsy
PIK3CA gene mutation status
- Cancer types: Breast cancer, colorectal cancer, non-small cell lung cancer, and ovarian cancer
- What's analyzed: Tumor
- How it's used: To assess the likely course of the disease (prognosis) and to determine the appropriateness of treatment with specific targeted therapies
PML/RARα fusion gene
- Cancer type: Acute promyelocytic leukemia (APL)
- What's analyzed: Blood and bone marrow
- How it's used: To diagnose APL, to predict response to all-trans-retinoic acid or arsenic trioxide therapy, to assess effectiveness of therapy, to monitor minimal residual disease, and to predict early relapse
Programmed death ligand 1 (PD-L1)
- Cancer types: Non-small cell lung cancer, triple-negative breast cancer, liver cancer, stomach cancer, gastroesophageal junction cancer, cervical cancer, bladder cancer, head and neck cancer, and classical Hodgkin lymphoma and other aggressive lymphoma subtypes
- What's analyzed: Tumor
- How it's used: To help determine treatment
Prostate-specific antigen (PSA)
- Cancer type: Prostate cancer
- What's analyzed: Blood
- How it's used: To help in diagnosis, to assess response to treatment, and to look for recurrence
Prostatic Acid Phosphatase (PAP)
- Cancer type: Metastatic prostate cancer
- What's analyzed: Blood
- How it's used: To help in diagnosing poorly differentiated carcinomas
RET gene fusions and mutations
- Cancer type: Medullary thyroid cancer, thyroid cancer, and non-small cell lung cancer
- What's analyzed: Tumor
- How it's used: To help determine treatment
ROS1 gene rearrangement
- Cancer type: Non-small cell lung cancer
- What's analyzed: Tumor
- How it's used: To help determine treatment
17-Gene signature (Oncotype DX GPS test)
- Cancer type: Prostate cancer
- What's analyzed: Tumor
- How it's used: To predict the aggressiveness of prostate cancer and to help manage treatment
70-Gene signature (Mammaprint)
- Cancer type: Breast cancer
- What's analyzed: Tumor
- How it's used: To evaluate the risk of recurrence
Soluble mesothelin-related peptides (SMRP)
- Cancer type: Mesothelioma
- What's analyzed: Blood
- How it's used: To monitor progression or recurrence
Somatostatin receptor
- Cancer type: Neuroendocrine tumors affecting the pancreas or gastrointestinal tract (GEP-NETs)
- What's analyzed: Tumor (by diagnostic imaging)
- How it's used: To help determine treatment
T-cell receptor gene rearrangement
- Cancer type: T-cell lymphoma
- What's analyzed: Bone marrow, tissue (e.g., lymph node), and blood
- How it's used: To help in diagnosis and to detect and evaluate residual disease
Terminal transferase (TdT)
- Cancer types: Leukemia, lymphoma
- What’s analyzed: Tumor, blood
- How it's used: To help in diagnosis
Thiopurine S-methyltransferase (TPMT) enzyme activity or TPMT genetic test
- Cancer type: Acute lymphoblastic leukemia
- What's analyzed: Blood and buccal (cheek) swab
- How it's used: To predict the risk of severe bone marrow toxicity (myelosuppression) with thiopurine treatment
Thyroglobulin
- Cancer type: Thyroid cancer
- What's analyzed: Blood
- How it's used: To evaluate response to treatment and to look for recurrence
TP53 gene mutations
- Cancer type: B-cell chronic lymphocytic leukemia
- What's analyzed: Blood
- How it's used: To help determine treatment and prognosis
Tumor mutational burden (TMB)
- Cancer type: Solid tumors
- What's analyzed: Tumor
- How it's used: To help determine treatment
21-Gene signature (Oncotype DX)
- Cancer type: Breast cancer
- What's analyzed: Tumor
- How it's used: To evaluate the risk of distant recurrence and to help plan treatment
UGT1A1*28 variant homozygosity
- Cancer type: Colorectal cancer
- What's analyzed: Blood and buccal (cheek) swab
- How it's used: To predict toxicity from irinotecan therapy
Urine catecholamines: VMA and HVA
- Cancer type: Neuroblastoma
- What's analyzed: Urine
- How it's used: To help in diagnosis
Urokinase plasminogen activator (uPA) and plasminogen activator inhibitor (PAI-1)
- Cancer type: Breast cancer
- What's analyzed: Tumor
- How used: To determine aggressiveness of cancer and guide treatment
Sources and References:
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