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Database 2: One
page profiles of current genetic tests (Continued)
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14. Cancer Antigen 125
| Test name |
Cancer Antigen 125 |
| Other names |
CA 125 |
| Description |
CA 125 is expressed by >80 percent of non-mucinous ovarian epithelial
neoplasms. Approximately half of women with metastatic ovarian cancer have
an elevated CA 125 level. |
| Purpose |
Recurrence, monitoring |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
Serum |
| Methodology |
MEIA, ICMA |
| Cancers |
Ovarian |
| Other cancers |
Lung, colorectal, pancreas, primary peritoneal carcinoma |
Clinical use(s)
a) Routine: |
- monitor response to treatment for patients with ovarian cancer.
- detect recurrence of ovarian cancer.
|
| Source of information |
Quest Diagnostics, Specialty Laboratories, UpToDate™ Web sites |
| Exploratory Medline search (8/02/05) |
- “CA-125 antigen” = 1,391 citations.
- “ovarian neoplasms” = 15,743 citations.
- “CA-125 antigen” and “ovarian neoplasms” =
793 citations.
|
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Contents
15. Cancer Antigen 15-3
| Test name |
Cancer Antigen 15-3 |
| Other names |
CA 15-3 |
| Description |
Elevated serum CA 15-3 concentrations are found in 5 percent of stage
I, 29 percent of stage II, 32 percent of stage III and 95 percent of stage
IV carcinoma of the breast. Most (96 percent) patients with a CA 15-3
increase of greater than 25 percent have disease progression. Most (nearly
100 percent) patients with a CA 15-3 decrease of greater than 50
percent are responding to treatment. |
| Purpose |
Recurrence, monitoring |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
Serum |
| Methodology |
ICMA |
| Cancers |
Breast |
Clinical use(s)
a) Routine: |
- Tumor marker used to monitor clinical course in patients with
metastatic disease.
- Change in CA 15-3 over time is predictive of response to therapy
or progression of disease.
- serum concentration correlates with tumor bulk.
|
| Source of information |
Specialty Laboratories, LabCorps, UpToDate™ Web sites |
| Exploratory Medline search (8/02/05) |
- “CA-15-3 antigen” = 1,629 citations.
- “breast neoplasm” = 57,603 citations.
- “CA-15-3 antigen” and “breast neoplasm” =
449 citations.
|
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16. Cancer Antigen 19-9
| Test name |
Cancer Antigen 19-9 |
| Other names |
CA 19-9 |
| Description |
CA 19-9 is a mucin-glycoprotein first identified from a human colorectal
carcinoma cell line and is present in epithelial tissue of the stomach,
gall bladder, pancreas and prostate. Concentrations are increased in patients
with pancreatic, gastric, and colon cancer as well as in some nonmalignant
conditions. Increasing levels generally indicate disease progression, whereas
decreasing levels suggest therapeutic response. |
| Purpose |
Recurrence, monitoring |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
Serum or plasma |
| Methodology |
EIA |
| Cancers |
Colorectal, pancreatic, liver |
| Other cancers |
Gastric |
Clinical use(s)
a) Routine: |
- Monitor effectiveness of therapy in individuals with pancreatic cancer.
- Monitor effectiveness of therapy in selected individuals with gastric
and colon cancer.
|
| Source of information |
Quest Diagnostics, LabCorps, and UpToDate™ Web sites. |
| Exploratory Medline search (8/02/05) |
- “CA-19–9 antigen” = 816 citations
- “colorectal neoplasm” = 37,826 citations
- “CA-19–9 antigen” and “colorectal neoplasm” =
122 citations
|
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17. Cancer Antigen 27.29
| Test name |
Cancer Antigen 27.29 |
| Other names |
CA 27.29 |
| Description |
Elevated CA 27.29 levels are primarily associated with metastatic breast
cancer, where it can be used to monitor the course of disease, response
to treatment, and detect disease recurrence. Elevated serum CA 27.29 concentrations
are found in 95 percent of stage IV breast cancer. In addition, CA 27.29
has been found to be elevated in lung (43 percent), pancreas (47 percent),
ovarian (56 percent), and liver (55 percent) cancer. |
| Purpose |
Recurrence, monitoring |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
Serum protein |
| Methodology |
ICMA |
| Cancers |
Breast |
| Other cancers |
May also be elevated in lung, pancreas, ovarian, and liver cancer. |
Clinical use(s)
a) Routine: |
- In patients with metastatic breast cancer and an elevated level of
this tumor marker, CA 27.29 can be used to monitor response to treatment,
determine whether tumor has become resistant to therapy, or whether a patient
has progressive disease.
|
| Source of information |
Quest Diagnostics, LabCorp, Specialty Labs Web sites |
| Exploratory Medline search (5/12/05) |
- “CA 27 29” or “CA 27-29” or “cancer
antigen 27 29” = 18 citations
- “breast neoplasm” = 55886 citations
- “CA 27 29” and “breast neoplasms” =
16 citations
- “CA 27 29” and “lung neoplasms”(36152)
= 0 citations
- “CA 27 29” and “pancreas neoplasms” (12117)
= 0 citations
- “CA 27 29” and “ovarian neoplasms” (15334)
= 1 citations
- “CA 27 29” and “liver neoplasms” (28088)
= 2 citations
|
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18. Carcinoembryonic Antigen
| Test name |
Carcinoembryonic Antigen |
| Other names |
CEA |
| Description |
CEA is an oncofetal glycoprotein present in the gastrointestinal tract
and body fluids of the embryo and fetus. It is also present in certain
adult gastrointestinal cells, including the mucosal cells of the colorectum,
and small amounts are present in blood. Blood levels are often elevated
in patients with disseminated cancers and in some patients with nonmalignant
disease. |
| Purpose |
Secondary prevention, prognostic, recurrence, monitoring |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
Serum |
| Methodology |
ICMA |
| Cancers |
Breast, lung, colorectal, pancreas, ovarian |
Clinical use(s)
a) Routine: |
- Monitor persistent, metastatic, or recurrent adenocarcinoma of the
colon following curative surgery
- Recommended for staging/prognosis, detecting recurrence, monitoring
therapy, and screening for hepatic metastases in patients with colon cancer.
|
Clinical use(s)
b) Investigational |
- If CEA is elevated at the time of diagnosis and prior to initiation of
treatment, it may be used to monitor response to therapy in patients with
breast, lung, pancreas, ovarian cancers.
|
| Source of information |
Quest Diagnostics, LabCorps, and UpToDate™ Web sites |
| Exploratory Medline search (8/02/05) |
- “carcinoembryonic antigen” = 2,785 citations
- “breast neoplasm” or “lung neoplasm” or
“colorectal neoplasm” or “pancreas neoplasm” or
“ovarian neoplasm” = 162,473 citations
- “carcinoembryonic antigen” and (b) = 1,504 citations
|
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19. Cathepsin D
| Test name |
Cathepsin D |
| Description |
This enzyme plays a critical role in protein catabolism and tissue remodeling.
Over-expression is associated with non-ductal carcinoma and metastasis
at the time of breast cancer diagnosis. |
| Purpose |
Prognostic |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
Tissue (formalin-fixed, paraffin-embedded) |
| Methodology |
IHC |
| Cancers |
Breast |
Clinical use(s)
b) Investigational |
- High levels may have clinical significance in predicting decreased metastasis-free
survival and decreased overall survival in women with node-negative breast
cancer.
|
| Source of information |
Quest Diagnostics, LabCorps, and UpToDate™ Web sites |
| Exploratory Medline search (8/2/05) |
- “cathepsin D” = 1,001 citations
- “breast neoplasm” = 57,603 citations
- “cathepsin D” and “breast neoplasm” =
203 citations
|
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20. CBFB/MYH11 fusion protein
| Test name |
CBFB/MYH11 fusion protein |
| Other names |
inv(16), t(16;16) |
| Description |
This inversion results in fusion of the core binding factor ß (CBFß)
gene on 16q22 with the smooth muscle myosin heavy chain gene (MYH11) on
16p13. This fusion protein accounts for 16 percent of the chromosomal aberrations
associated with AML and patients with inv(16) or t(16;16) generally have
relatively good response and long-term disease-free survival rates. |
| Purpose |
Diagnostic, prognostic, monitoring |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
Blood, marrow |
| Methodology |
PCR |
| Cancers |
Acute myleomonocytic leukemia (AML subtype M4E0) |
Clinical use(s)
b) Investigational |
- Diagnosis of acute myelomonocytic leukemia (AML) with abnormal eosinophils,
with inv(16) or t(16;16)
- Monitor effectiveness of treatment
- Monitor minimal residual disease
- Predict early relapse
|
| Source of information |
Quest Diagnostic and UpToDate™ Web sites |
| Exploratory Medline search (8/2/05) |
- “oncogene proteins, fusion” = 3,798 citations
- “leukemia, myelocytic, acute” = 4,151 citations
- “oncogene proteins, fusion” and “leukemia,
myelocytic, acute” = 172 citations
|
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Contents
21. CD 117, c-kit
| Test name |
CD 117, c-kit |
| Other names |
Imatinib mesylate (Gleevec) sensitivity |
| Description |
The glycoprotein c-kit (CD117) is a member of the receptor tyrosine kinase
subclass III family and has been implicated in a number of malignancies.
Imatinib mesylate, a tyrosine kinase inhibitor, is effective in treating
GISTs and other tumors that express c-kit. |
| Purpose |
Diagnostic |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
Tissue |
| Methodology |
IHC |
| Cancers |
Gastrointestinal stromal tumors, c-kit positive |
Clinical use(s)
a) Routine: |
- Determine eligibility for treatment with imatinib mesylate
in patients with c-kit-positive gastrointestinal stromal tumors (GISTs)
|
| Source of information |
Quest Diagnostics, UpToDate™ Web sites |
| Exploratory Medline search (8/2/05) |
- “proto-oncogene protein c-kit” = 2,022 citations
- “gastrointestinal neoplasm” = 66,189 citations
- “proto-oncogene protein c-kit” and “gastrointestinal
neoplasm” = 367 citations
|
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22. CD 20
| Test name |
CD 20 |
| Other names |
Rituximab (Rituxan) sensitivity |
| Description |
Rituximab is a genetically engineered, chimeric murine/human monoclonal
antibody directed against the CD20 antigen found on the surface of normal
and malignant B-cell lymphocytes. Since non-Hodgkin's Lymphoma (NHL)
subtypes may differ in their response to rituximab, determination of drug
sensitivity is important for choosing therapy. |
| Purpose |
Diagnostic |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
Blood |
| Methodology |
Flow cytometry |
| Cancers |
B-cell non-Hodgkin's lymphoma |
Clinical use(s)
a) Routine: |
- Determine eligibility for rituximab (Rituxan; anti-CD20) treatment
in patients with B-cell non-Hodgkin's lymphomas (NHL)
|
| Source of information |
Quest Diagnostics, UpToDate™ Web sites |
| Exploratory Medline search (8/2/05) |
- “antigens, cd20” = 1,022 citations
- “lymphoma, Non-Hodgkin” = 22,160 citations
- “antigens, cd20” and “lymphoma, Non-Hodgkin” = 475
citations
|
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23. CD 25 (immunohistochemistry and
flow cytometry)
| Test name |
CD 25 (immunohistochemistry and
flow cytometry) |
| Other names |
Denileukin diftitox (Ontak) sensitivity |
| Description |
Denileukin diftitox (Ontak) is a cutaneous T-cell lymphoma (CTCL) therapy
that targets the high-affinity interleukin-2 (IL-2) receptor. The IL-2
receptor may exist in a low-affinity form (CD25), an intermediate-affinity
form (CD122/CD132), and a high-affinity form (CD25/CD122/CD132). Patients
whose malignant cells express the CD25 component of the IL-2 receptor may
respond to Ontak therapy. |
| Purpose |
Diagnostic |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
Tissue (IHC), blood or marrow (flow cytometry) |
| Methodology |
IHC or flow cytometry |
| Cancers |
Cutaneous T-cell lymphoma |
Clinical use(s)
a) Routine: |
Determine eligibility for denileukin diftitox treatment in patients with
persistent or recurrent CTCL |
| Source of information |
Quest Diagnostics and UpToDate™ Web sites |
| Exploratory Medline search (8/2/05) |
- “receptors, interleukin-2” = 4,221 citations
- “lymphoma, t-cell, cutaneous” = 2,157 citations
- “receptors, interleukin-2” and “lymphoma, t-cell, cutaneous” =
25 citations
|
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24. CD 33
| Test name |
CD 33 |
| Other names |
Gemtuzumab (Mylotarg) sensitivity |
| Description |
Gemtuzumab consists of a recombinant, humanized IgG kappa antibody conjugated
to a cytotoxic anti-tumor antibiotic, calicheamicin, which binds specifically
to the CD33 antigen. This antigen is found on the surface of leukemic blasts
and immature normal cells of myelomonocytic lineage, but not in normal
hematopoietic stem cells. |
| Purpose |
Diagnostic |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
Blood, marrow |
| Methodology |
Flow cytometry |
| Cancers |
Acute myeloid leukemia (AML) |
Clinical use(s)
a) Routine: |
- Determine eligibility for gemtuzumab (Mylotarg, anti-CD33) treatment
in patients with acute myeloid leukemia
|
| Source of information |
Quest Diagnostics and UpToDate™ Web sites |
| Exploratory Medline search (8/2/05) |
- “antigens, cd” = 88,193 citations
- “leukemia, myelocytic, acute” = 4,151 citations
- “cd 33.mp” = 27 citations
- “antigens, cd” and “leukemia, myelocytic, acute” =
435 citations
|
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25. CD 52
| Test name |
CD 52 |
| Other names |
Alemtuzumab (Campath) sensitivity |
| Description |
CD52 is an antigen that can be expressed at high density on the surface
of malignant CLL cells. Alemtuzumab is a humanized antibody targeted against
CD52 and its binding is necessary for cell death and therapeutic response. |
| Purpose |
Diagnostic |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
Blood, marrow |
| Methodology |
Flow cytometry |
| Cancers |
Chronic lymphocytic leukemia (CLL) |
Clinical use(s)
a) Routine: |
- Determine eligibility for alemtuzumab (Campath, anti-CD52) treatment
in patients with chronic lymphocytic leukemia.
|
| Source of information |
Quest Diagnostics and UpToDate™ Web sites |
| Exploratory Medline search (8/2/05) |
- “antigens, cd” = 88,193 citations
- “leukemia, lymphocytic, chronic” = 3,422 citations
- “cd 52.mp” = 13 citations
- “antigens, cd” and “leukemia, lymphocytic, chronic” =
646 citations
|
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26. Chromosome 18q assay
| Test name |
Chromosome 18q assay |
| Other names |
18q/RER, DCC |
| Description |
Colorectal cancer patients with tumors with chromosome 18 deletion are
more likely to have disease recurrence and have a shorter disease-free
survival period when compared to patients with two copies of this chromosome. |
| Purpose |
Diagnostic, prognostic |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
Blood, tissue |
| Methodology |
PCR |
| Cancers |
Colorectal cancer |
Clinical use(s)
a) Routine: |
- Diagnosis of colorectal disease
- Predict recurrence of disease
|
| Source of information |
LabCorps and UpToDate™ Web sites |
| Exploratory Medline search (8/2/05) |
- "chromosomes, human, pair 18” = 1,824 citations
- “colorectal neoplasms” = 37,826 citations
- “chromosomes, human, pair 18” and “colorectal
neoplasms” = 108
|
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27. Colaris
| Test name |
Colaris |
| Other names |
MLH1, MSH2 |
| Description |
Hereditary nonpolyposis colorectal cancer (HNPCC) accounts for about
3 percent to 5 percent of colorectal cancers (CRCs) and is caused by defects
in mismatch repair (MMR) enzymes. These defects may also increase the risk
of endometrial, cervical, stomach, ovarian, and other forms of cancer.
About 90 percent of individuals with HNPCC have mutations in 1 of 2 MMR
genes, MLH1 or MSH2. |
| Purpose |
Secondary prevention, diagnostic |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
Blood |
| Methodology |
PCR |
| Cancers |
Colorectal |
| Other cancers |
Endometrial, cervical, stomach, ovarian |
Clinical use(s)
a) Routine: |
- Differentiate hereditary nonpolyposis colorectal cancer (HNPCC) from
non-HNPCC colorectal cancer (CRC)
- Assess risk of HNPCC in family members of individuals with HNPCC
|
| Source of information |
Quest Diagnostics, LabCorps, UpToDate™ Web sites |
| Exploratory Medline search (8/2/05) |
- “colorectal neoplasm, hereditary nonpolyposis” = 1,363
citations
- “base pair mismatch” = 2,251 citations
- “colorectal neoplasm, hereditary nonpolyposis” and “base
pair mismatch” = 268 citations
|
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Contents
28. Colaris AP
| Test name |
Colaris AP |
| Other names |
APC, FAP |
| Description |
Used to identify patients who may have disease-causing mutations, by
sequencing the coding region of the APC gene. Individuals with mutations
in this gene are at risk for developing early onset of colon cancer. Identifying
these mutations makes allows for presymptomatic diagnosis of familial adenomatous
polyposis (FAP). |
| Purpose |
Secondary prevention, diagnostic |
| Availability |
LabCorp |
| Specimen |
Blood |
| Methodology |
PCR |
| Cancers |
Colorectal |
Clinical use(s)
a) Routine: |
- Identify genetic predisposition to colorectal cancers associated with FAP
|
| Source of information |
LabCorp Web site |
| Exploratory Medline search (8/2/05) |
- “genes, apc” = 1,167 citations
- “colorectal neoplasm,
hereditary nonpolyposis” = 1,363 citations
- “genes, apc” and “colorectal neoplasm, hereditary
nonpolyposis” = 57 citations
|
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Contents
29. Cyclin D1
| Test name |
Cyclin D1 |
| Description |
D-type cyclins are predominantly expressed in the G1 phase of the cell
cycle. The expression pattern of cyclin D1 has been extensively studied
in certain cancer types including lymphoma and non-small cell lung cancer.
Approximately 30 percent of breast carcinomas are Cyclin D1 positive. Over
expression of Cyclin D1 is now a well established criterion for the diagnosis
of Mantle Cell Lymphoma, a malignant, non-Hodgkin's lymphoma which is characterized
by a unique chromosomal translocation t(11;14). |
| Purpose |
Diagnostic, prognostic |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
Blood, tissue |
| Methodology |
FISH |
| Cancers |
Mantle cell lymphoma |
Clinical use(s)
a) Routine: |
- Diagnosis of mantle cell lymphoma
- Predict recurrence of disease
|
| Source of information |
LabCorp and UpToDate™ Web sites |
| Exploratory Medline search (8/2/05) |
- “cyclin d1” = 2,877 citations
- “lymphoma, mantle cell” = 539 citations
- “cyclin d1” and “lymphoma, mantle cell” =
85 citations
|
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30. E-cadherin
| Test name |
E-cadherin |
| Description |
E-cadherin is a calcium-dependent epithelial cell-cell adhesion molecule
that is associated with tumor invasiveness and disease progression. Ecadherin
under-expression appears to be associated with poor tumor differentiation,
progression following radical prostatectomy, and diminished overall survival. |
| Purpose |
Prognostic |
| Availability |
Commercial laboratories, academic hospitals |
| Specimen |
Tissue |
| Methodology |
IHC |
| Cancers |
Prostate |
Clinical use(s)
a) Routine: |
- Determine prognosis, predict tumor behavior and response to therapy.
|
| Source of information |
Quest Diagnostics and UpToDate™ Web sites |
Exploratory Medline search (8/2/05) |
- “cadherins” = 4,880 citations
- “prostatic neoplasm” = 25,690 citations
- “cadherins” and “prostatic neoplasm” = 115 citations
|
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