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.
Listed below are tumor markers that are in common use, mainly to determine treatment or to help make a diagnosis of cancer. New tumor markers frequently become available and may not be reflected on this list.
This list 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.
ALK gene rearrangements and overexpression
Cancer types: Non-small cell lung cancer and anaplastic large cell lymphoma
Use: To help determine treatment and prognosis
Alpha-fetoprotein (AFP)
Cancer types: Liver cancer and germ cell tumors
Use: To help diagnose liver cancer 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
Use: To help in diagnosis, to evaluate effectiveness of treatment, and to check for recurrence
Beta-2-microglobulin (B2M)
Cancer types: Multiple myeloma, chronic lymphocytic leukemia, and some lymphomas
Use: To determine prognosis and follow response to treatment
Beta-human chorionic gonadotropin (Beta-hCG)
Cancer types: Choriocarcinoma and germ cell tumors
Use: To assess stage, prognosis, and response to treatment
Bladder Tumor Antigen (BTA)
Cancer types: Bladder cancer and cancer of the kidney or ureter
Use: As surveillance with cytology and cystoscopy of patients already known to have bladder cancer
BRCA1 and BRCA2 gene mutations
Cancer types: Ovarian and breast cancers
Use: To determine whether treatment with a particular type of targeted therapy is appropriate
BCR-ABL fusion gene (Philadelphia chromosome)
Cancer types: Chronic myeloid leukemia, acute lymphoblastic leukemia, and acute myelogenous leukemia
Use: To confirm diagnosis, predict response to targeted therapy, determine whether treatment with a particular type of targeted therapy is appropriate, and monitor disease status
BRAF V600 mutations
Cancer types: Cutaneous melanoma, Erdheim-Chester disease, colorectal cancer, and non-small cell lung cancer
Use: To select patients who are most likely to benefit from treatment with certain targeted therapies
C-kit/CD117
Cancer types: Gastrointestinal stromal tumor, mucosal melanoma, acute myeloid leukemia, and mast cell disease
Use: To help in diagnosing and determining treatment
CA15-3/CA27.29
Cancer type: Breast cancer
Use: To assess whether treatment is working or if the cancer has recurred
CA19-9
Cancer types: Pancreatic, gallbladder, bile duct, and gastric cancers
Use: To assess whether treatment is working
CA-125
Cancer type: Ovarian cancer
Use: To help in diagnosis, assessment of response to treatment, and evaluation of recurrence
CA 27.29
Cancer type: Breast cancer
Use: To detect metastasis or recurrence
Calcitonin
Cancer type: Medullary thyroid cancer
Use: To aid in diagnosis, check whether treatment is working, and assess recurrence
Carcinoembryonic antigen (CEA)
Cancer types: Colorectal cancer and some other cancers
Use: To keep track of how well cancer treatments are working and check if cancer has come back or spread
CD20
Cancer type: Non-Hodgkin lymphoma
Use: To determine whether treatment with a targeted therapy is appropriate
CD22
Cancer types: Hairy cell leukemia and B-cell neoplasms
Use: To help in diagnosis
CD25
Cancer type: Non-Hodgkin (T-cell) lymphoma
Use: To determine whether treatment with a targeted therapy is appropriate
CD30
Cancer types: Mycosis fungoides and peripheral T-cell lymphoma
Use: To determine whether treatment with a targeted therapy is appropriate
CD33
Cancer type: Acute myeloid leukemia
Use: To determine whether treatment with a targeted therapy is appropriate
Chromogranin A (CgA)
Cancer type: Neuroendocrine tumors
Use: To help in diagnosis, assessment of treatment response, and evaluation of recurrence
Chromosome 17p deletion
Cancer type: Chronic lymphocytic leukemia
Use: To determine whether treatment with a certain targeted therapy is appropriate
Chromosomes 3, 7, 17, and 9p21
Cancer type: Bladder cancer
Use: To help in monitoring for tumor recurrence
Circulating tumor cells of epithelial origin
Cancer types: Metastatic breast, prostate, and colorectal cancers
Use: To inform clinical decision making, and to assess prognosis
Cytokeratin fragment 21-1
Cancer type: Lung cancer
Use: To help in monitoring for recurrence
Des-gamma-carboxy prothrombin (DCP)
Cancer type: Hepatocellular carcinoma
Use: To monitor the effectiveness of treatment and to detect recurrence
DPD gene mutation
Cancer types: Breast, colorectal, gastric, and pancreatic cancers
Use: To predict the risk of a toxic reaction to 5-fluorouracil therapy
EGFR gene mutation
Cancer type: Non-small cell lung cancer
Use: To help determine treatment and prognosis
Estrogen receptor (ER)/progesterone receptor (PR)
Cancer type: Breast cancer
Use: To determine whether treatment with hormone therapy and some targeted therapies is appropriate
FGFR2 and FGFR3 gene mutations
Cancer type: Bladder cancer
Use: To determine whether treatment with a certain targeted therapy is appropriate
Fibrin/fibrinogen
Cancer type: Bladder cancer
Use: To monitor progression and response to treatment
FLT3 gene mutations
Cancer type: Acute myeloid leukemia
Use: To determine whether treatment with certain targeted therapies is appropriate
Gastrin
Cancer type: Gastrin-producing tumor (gastrinoma)
Use: To help in diagnosis, to monitor the effectiveness of treatment, and to detect recurrence
HE4
Cancer type: Ovarian cancer
Use: To plan cancer treatment, assess disease progression, and monitor for recurrence
HER2/neu gene amplification or protein overexpression
Cancer types: Breast, ovarian, bladder, pancreatic, and stomach cancers
Use: To determine whether treatment with certain targeted therapies is appropriate
5-HIAA
Cancer type: Carcinoid tumors
Use: To help in diagnosis and to monitor disease
IDH1 and IDH2 gene mutations
Cancer type: Acute myeloid leukemia
Use: To determine whether treatment with certain targeted therapies is appropriate
Immunoglobulins
Cancer types: Multiple myeloma and Waldenström macroglobulinemia
Use: To help diagnose disease, assess response to treatment, and look for recurrence
JAK2 gene mutation
Cancer type: Certain types of leukemia
Use: To help in diagnosis
KRAS gene mutation
Cancer types: Colorectal cancer and non-small cell lung cancer
Use: To determine whether treatment with a particular type of targeted therapy is appropriate
Lactate dehydrogenase
Cancer types: Germ cell tumors, lymphoma, leukemia, melanoma, and neuroblastoma
Use: To assess stage, prognosis, and response to treatment
Microsatellite instability (MSI) and/or mismatch repair deficient (dMMR)
Cancer types: Colorectal cancer and other solid tumors
Use: To guide treatment and to identify those at high risk of certain cancer-predisposing syndromes
Neuron-specific enolase (NSE)
Cancer types: Small cell lung cancer and neuroblastoma
Use: To help in diagnosis and to assess response to treatment
Nuclear matrix protein 22
Cancer type: Bladder cancer
Use: To monitor response to treatment
PCA3 mRNA
Cancer type: Prostate cancer
Use: To determine need for repeat biopsy after negative biopsy
PML/RARα fusion gene
Cancer type: Acute promyelocytic leukemia (APL)
Use: 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
Prostatic Acid Phosphatase (PAP)
Cancer type: Metastatic prostate cancer
Use: To help in diagnosing poorly differentiated carcinomas
Programmed death ligand 1 (PD-L1)
Cancer types: Non-small cell lung cancer, liver cancer, stomach cancer, gastroesophageal junction cancer, classical Hodgkin lymphoma, and other aggressive lymphoma subtypes
Use: To determine whether treatment with a particular type of targeted therapy is appropriate
Prostate-specific antigen (PSA)
Cancer type: Prostate cancer
Use: To help in diagnosis, to assess response to treatment, and to look for recurrence
ROS1 gene rearrangement
Cancer type: Non-small cell lung cancer
Use: To determine whether treatment with a particular type of targeted therapy is appropriate
Soluble mesothelin-related peptides (SMRP)
Cancer type: Mesothelioma
Use: To monitor progression or recurrence
Somatostatin receptor
Cancer type: Neuroendocrine tumors affecting the pancreas or gastrointestinal tract (GEP-NETs)
Use: To determine whether treatment with a particular type of targeted therapy is appropriate
T-cell receptor gene rearrangement
Cancer type: T-cell lymphoma
Use: To help in diagnosis; sometimes to detect and evaluate residual disease
Thiopurine S-methyltransferase (TPMT) enzyme activity or TPMT genetic test
Cancer type: Acute lymphoblastic leukemia
Use: To predict the risk of severe bone marrow toxicity (myelosuppression) with thiopurine treatment
Thyroglobulin
Cancer type: Thyroid cancer
Use: To evaluate response to treatment and to look for recurrence
UGT1A1*28 variant homozygosity
Cancer type: Colorectal cancer
Use: To predict toxicity from irinotecan therapy
Urine catecholamines: VMA and HVA
Cancer type: Neuroblastoma
Use: To help in diagnosis
Urokinase plasminogen activator (uPA) and plasminogen activator inhibitor (PAI-1)
Cancer type: Breast cancer
Use: To determine aggressiveness of cancer and guide treatment
CDx (F1CDx) genomic test
Cancer type: Any solid tumor
Use: As a companion diagnostic test to determine whether treatment with a particular type of targeted therapy is appropriate
5-Protein signature
Cancer type: Ovarian cancer
Use: To pre-operatively assess pelvic mass for suspected ovarian cancer
17-Gene signature
Cancer type: Prostate cancer
Use: To predict the aggressiveness of prostate cancer and to help manage treatment
21-Gene signature
Cancer type: Breast cancer
Use: To evaluate risk of distant recurrence and to help plan treatment
46-Gene signature
Cancer type: Prostate cancer
Use: To predict the aggressiveness of prostate cancer and to help manage treatment
70-Gene signature
Cancer type: Breast cancer
Use: To evaluate risk of recurrence
