| Test name | MLH1, MSH2, MSH6 mutations |
|---|---|
| Other names | HNPCC mismatch repair gene |
| Description | About 90 percent of individuals with HNPCC have mutations in one of two mismatch repair (MMR) genes, MLH1 or MSH2. Mutations in MSH6, PMS1, and PMS2 have also been implicated in this malignancy. These genes are responsible for correcting nucleotide base mispairs and small insertions or deletions that occur during DNA replication. The lifetime risk of colorectal cancer in individuals with an MMR gene mutation is about 80 percent. |
| Purpose | Primary prevention |
| Availability | Commercial laboratories, academic hospitals |
| Specimen | Blood |
| Methodology | PCR |
| Cancers | Colorectal |
| Clinical use(s) a) Routine: |
|
| Source of information | Quest Diagnostics and UpToDate Web sites |
| Exploratory Medline search (8/2/05) |
|
| Test name | Neuron specific enolase |
|---|---|
| Other names | NSE |
| Description | NSE is a glycolytic enzyme that catalyzes the conversion of phosphoglycerate to phosphoenol pyruvate. Elevated NSE concentrations are observed in patients with neuroblastoma, pancreatic islet cell carcinoma, medullary thyroid carcinoma, pheochromocytoma, and other neuroendocrine tumors. Additionally, NSE levels are frequently increased in patients with small cell lung cancer (SCLC) and infrequently in patients with non-SCLC. |
| Purpose | Monitoring |
| Availability | Commercial laboratories, academic hospitals |
| Specimen | Serum |
| Methodology | RIA |
| Cancers | Lung, pancreas |
| Other cancers | Neuroblastoma, carcinoma, medullary thyroid carcinoma, pheochromocytoma and other neuroendocrine tumors. |
| Clinical use(s) a) Routine: |
|
| Source of information | Specialty Laboratories, Quest Diagnostics Web sites |
| Exploratory Medline search (8/2/05) |
|
| Test name | Nuclear matrix proteins |
|---|---|
| Other names | NMP 22 |
| Description | Nuclear matrix proteins (NMPs) are associated with functions such as DNA replication and RNA synthesis. Identification of increased concentrations of NMP 22 can aid in the management of patients with transitional cell carcinoma of the urinary tract and also in the differential \ diagnosis of persons with symptoms or risk factors for transitional cell carcinoma of the bladder. |
| Purpose | Diagnostic, recurrence, monitoring |
| Availability | Commercial laboratories, academic hospitals |
| Specimen | Urine |
| Methodology | EIA |
| Cancers | Bladder |
| Clinical use(s) a) Routine: |
|
| Source of information | Quest Diagnostics, LabCorp Web sites |
| Exploratory Medline search (8/2/05) |
|
| Test name | Oncotype DX™ |
|---|---|
| Other names | Breast cancer assay |
| Description | Oncotype DX is an assay that quantifies the likelihood of breast cancer recurrence in women with newly diagnosed, stage I or II, node negative, estrogen receptor positive breast cancer who will be treated with Tamoxifen. The assay analyzes the expression of a panel of 21 genes and the results are provided as a Recurrence Score™ (0-100). Using the Recurrence score, patients are classified into low, intermediate, and high risk categories for likelihood of disease recurrence. |
| Purpose | Prognostic |
| Availability | Limited commercial availability via Genomic Health (Redwood City, CA), academic institutions participating in clinical trials. |
| Specimen | Tumor tissue RNA |
| Methodology | PCR |
| Cancers | Breast |
| Clinical use(s) b) Investigational |
|
| Source of information | Genomic Health Web site and promotional material |
| Exploratory Medline search (5/12/05) |
|
| Test name | p53 tumor suppressor gene |
|---|---|
| Other names | p53 |
| Description | p53 is a tumor suppressor gene and normally has an inhibitory influence on the cell cycle. Once this gene is deleted or its function reduced, normal control mechanisms are altered. Alterations of the p53 tumor suppressor gene have been shown to serve as a powerful prognostic marker in a wide variety of tumor types such as colorectal, breast, prostate, and bladder. Additionally, alterations of p53 are associated with tumor recurrence and shorter disease-free survival. |
| Purpose | Prognostic |
| Availability | Commercial laboratories, academic hospitals |
| Specimen | Tissue |
| Methodology | IHC |
| Cancers | Breast, prostate, colorectal |
| Other cancers | Bladder |
| Clinical use(s) a) Routine: |
|
| Source of information | Quest Diagnostics, LabCorp, and UpToDate Web sites |
| Exploratory Medline search (5/25/05) |
|
| Test name | PML/RARA translocation |
|---|---|
| Other names | t(15;17) |
| Description | More than 99 percent of (acute promyelocytic leukemia) APL patients harbor a translocation between chromosomes 15 and 17, which fuses the retinoic acid receptor alpha (RARA) gene on chromosome 17 with the PML gene on chromosome 15. Historically one of the most lethal forms of acute myeloid leukemia, APL leads to disseminated intravascular coagulation and death when not diagnosed and treated. Treatment with all-trans-retinoic acid substantially improves survival in patients who have failed anthracycline chemotherapy or for whom anthracycline is contraindicated. |
| Purpose | Diagnostic, prognostic, monitoring |
| Availability | Commercial laboratories, academic hospitals |
| Specimen | Blood, marrow |
| Methodology | PCR |
| Cancers | Acute promeylocytic leukemia |
| Clinical use(s) a) Routine: |
|
| Source of information | Quest Diagnostics, UpToDate Web sites |
| Exploratory Medline search (8/2/05) |
|
| Test name | PreGen-26 |
|---|---|
| Other names | MSI, BAT-26 |
| Description | Isolates human DNA in stool and detects microsatellite instability usually associated with HNPCC and in a subset of sporadic colorectal cancers. PreGen-26 identifies alterations in the BAT-26 mononucleotide marker, believed to be the most frequent alteration found in tissue in HNPCC. BAT-26 microsatellite instability is present in as many as 90 percent of the colorectal cancers that occur in patients with HNPCC. PreGen-26 results can help to determine which patients are likely to have the presence of cancer with BAT-26 MSI. |
| Purpose | Primary and secondary prevention, monitoring |
| Availability | LabCorp |
| Specimen | Stool DNA |
| Methodology | PCR |
| Cancers | Colorectal |
| Clinical use(s) a) Routine: |
|
| Source of information | Exact Sciences, LabCorp Web sites |
| Exploratory Medline search (8/2/05) |
|
| Test name | PreGen-Plus™ |
|---|---|
| Other names | DNA-based colorectal cancer test |
| Description | PreGen-Plus is a noninvasive screening test designed to detect clinically significant colorectal cancer. PreGen-Plus consists of a panel of 23 individual tests, each looking for the presence of mutations in human DNA isolated from stool. Three distinct technologies look for the presence of mutations in the k-ras oncogene, the APC and p53 tumor suppressor genes, shortened forms of BAT-26 (microsatellite instability), and a novel marker for disordered apoptosis. |
| Purpose | Secondary prevention, monitoring |
| Availability | Developed by EXACT Sciences, available commercially at LabCorp exclusively. |
| Specimen | Stool DNA |
| Methodology | PCR |
| Cancers | Colorectal |
| Clinical use(s) b) Investigational |
|
| Source of information | Exact Sciences, LabCorp Web sites |
| Exploratory Medline search (5/12/05) |
|
| Test name | Prostate Specific Antigen |
|---|---|
| Other names | PSA: free, total, ultra-sensitive, with HAMA |
| Description | PSA is elevated in about 30 percent of all cases with nodular prostatic enlargement. Circulating PSA exists as two major forms: complexed and free. Bound PSA is found in higher concentrations in patients with prostate cancer and free-PSA concentrations are higher in patients with Benign prostatic hypertrophy (BPH). PSA can be used to aid in the management of patients following surgical or medical treatment for prostate cancer. |
| Purpose | Secondary prevention, prognostic, recurrence, monitoring |
| Availability | Commercial laboratories, academic hospitals |
| Specimen | Blood |
| Methodology | ICMA, IRMA, EIA, MEIA |
| Cancers | Prostate |
| Clinical use(s) a) Routine: |
|
| Source of information | Quest Diagnostics, Specialty Labs, Abbott Diagnostics, UpToDate |
| Exploratory Medline search (8/2/05) |
|
| Test name | T-cell receptor gene rearrangement |
|---|---|
| Description | Study intended to provide some evidence that can help to distinguish between benign lymphadenopathy and malignant lymphoma. Specifically used to detect clonal gene rearrangements in the T-cell receptor beta-chain constant region. The presence of a monoclonal gene rearrangement usually, but not always, reflects the presence of a T-lymphocytic neoplasm while polyclonal gene rearrangement patterns are found in benign reactive conditions. |
| Purpose | Diagnostic |
| Availability | Commercial laboratories, academic hospitals |
| Specimen | Blood, marrow, tissue |
| Methodology | Southern blot analysis |
| Cancers | T-cell malignancies, lymphomas and leukemias |
| Clinical use(s) a) Routine: |
|
| Source of information | LabCorp and UpToDate Web sites |
| Exploratory Medline search (8/2/05) |
|
| Test name | TEL/AML 1 gene fusion |
|---|---|
| Other names | t(12;21) |
| Description | The TEL/AML1 is a gene fusion resulting from a t(12;21)(p13;q22) chromosomal translocation. Although it occurs in only about 3 percent of adult acute lymphoblastic leukemia (ALL) cases, it is the most common genetic rearrangement in B-lineage pediatric ALL (frequency ~25 percent). The TEL/AML1 gene fusion is associated with a more favorable prognosis as evidenced by a significantly lower relapse rate. |
| Purpose | Diagnostic, prognostic, monitoring |
| Availability | Commercial laboratories, academic hospitals |
| Specimen | Blood, marrow |
| Methodology | FISH |
| Cancers | Leukemia, acute lymphoblastic leukemia |
| Clinical use(s) a) Routine: |
|
| Source of information | Quest Diagnostics, UpToDate Web sites |
| Exploratory Medline search (8/2/05) |
|
| Test name | Thyroglobulin |
|---|---|
| Description | Thyroglobulin is elevated in differential thyroid tumors. Thyroglobulin is a tumor marker useful to assess the presence of residual papillary-follicular carcinoma of thyroid following resection, including tumors that fail to concentrate radioiodine. Additionally, thyroglobulin assays are used to monitor postoperative thyroid carcinoma patients. |
| Purpose | Recurrence, monitoring |
| Availability | Commercial laboratories, academic hospitals |
| Specimen | Serum |
| Methodology | ICMA |
| Cancers | Thyroid carcinoma |
| Clinical use(s) a) Routine: |
|
| Source of information | LabCorp and UpToDate Web sites |
| Exploratory Medline search (8/2/05) |
|
| Test name | Tumor antigen 90 immune complex |
|---|---|
| Other names | TA90-IC |
| Description | TA90 is a 90-kd tumor-associated antigen that is expressed by > 70 percent of melanomas. After curative resection of malignant melanoma, patients with occult metastasis may exhibit elevated levels of a TA90-IgG immune complex. TA90-IC is a sensitive and specific marker of recurrence in patients with malignant melanoma and is associated with shortened survival. |
| Purpose | Prognostic, recurrence, monitoring |
| Availability | Commercial laboratories, academic hospitals |
| Specimen | Serum |
| Methodology | EIA |
| Cancers | Melanoma |
| Clinical use(s) a) Routine: |
|
| Source of information | Quest Diagostics and UpToDate Web sites |
| Exploratory Medline search (8/2/05) |
|
| Test name | Urokinase plasminogen activator |
|---|---|
| Other names | uPA, PAI-1 (plasminogen activator inhibitor) |
| Description | The serine protease urokinase-type plasminogen activator (uPA) and its primary inhibitor, plasminogen activator inhibitor-1 (PAI-1), have shown promise for risk assessment and prediction of therapeutic response in primary breast cancer. High levels of uPA or PAI-1 in primary tumor tissue are associated with an aggressive disease course and poor prognosis in both node-positive and node-negative breast cancer. |
| Purpose | Prognostic |
| Availability | Commercial laboratories, academic hospitals |
| Specimen | Tissue |
| Methodology | EIA |
| Cancers | Breast |
| Clinical use(s) a) Routine: |
|
| Source of information | Quest diagnostics |
| Exploratory Medline search (8/2/05) |
|
| Test name | Urovysion |
|---|---|
| Other names | Vysis Urovision |
| Description | Detects chromosomal abnormalities associated with the development and progression of bladder cancer. Specifically, this test detects aneuploidy of chromosomes 3, 7, 17, and loss of the 9p21 locus. It detects high grade pT1 and pTis tumors that can be overlooked with traditional diagnostic methods and have high progression rates to muscle-invasive cancer |
| Purpose | Recurrence |
| Availability | Commercial laboratories, academic hospitals |
| Specimen | Urine |
| Methodology | FISH |
| Cancers | Bladder |
| Clinical use(s) a) Routine: |
|
| Source of information | Quest Diagnostics, Urovision, and UpToDate Web sites |
| Exploratory Medline search (8/2/05) |
|
| Test name | ZAP-70 |
|---|---|
| Description | ZAP-70 is a 70-kD member of the Syk family of protein tyrosine kinases. It is expressed primarily in T-cells and natural killer (NK) cells and is critical for signal transduction following T-cell receptor engagement. In CLL B-cells, elevated ZAP-70 expression appears to predict the need for therapy as effectively as IgVH mutation status. Although ZAP-70 expression is strongly correlated with IgVH mutation status, the combination of the two markers may provide greater prognostic value than either marker alone. Positive ZAP-70 results predict an aggressive disease course. |
| Purpose | Prognostic |
| Availability | Commercial laboratories, academic hospitals |
| Specimen | Blood, marrow |
| Methodology | Flow cytometry |
| Cancers | CLL |
| Clinical use(s) a) Routine: |
|
| Source of information | Quest Diagnostics and UpToDate Web sites |
| Exploratory Medline search (8/2/05) |
|