Database 2: One page profiles of current genetic tests

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Glossary of test acronyms used in this database
Acronym Test
EIA Enzyme immunoassay
FISH Fluorescence in-situ hybridization
ICC Immunocytochemistry
ICMA Immunochemiluminometric assay
IHC Immunohistochemistry
IRMA Immunoradiometric assay
MEIA Microparticle enzyme immunoassay
PCR Polymerase chain reaction
RIA Radioimmunoassay
RT-PCR Reverse transcriptase polymerase chain reaction

Profile Contents

1. Acid phosphatase, total and prostatic
2. Adrenocorticotropic hormone
3. Alpha fetoprotein
4. AML1/ETO translocation
5. B-cell gene rearrangement
6. BCL-1/JH gene rearrangement
7. BCL-2 translocation
8. BCR/ABL gene rearrangement
9. Beta human chorionic gonadotropin
10. Beta-2 microglobulin
11. Bladder tumor antigen
12. BRCA Analysis
13. Calcitonin
14. Cancer antigen 125
15. Cancer antigen 15-3
16. Cancer antigen 19-9
17. Cancer antigen 27.29
18. Carcinoembryonic antigen
19. Cathepsin D
20. CBFB/MYH11 fusion protein
21. CD 117, c-kit
22. CD 20
23. CD 25
24. CD 33
25. CD 52
26. Chromosome 18q assay
27. Colaris
28. Colaris AP
29. Cyclin-D1
30. E-cadherin
31. Epidermal growth factor receptor
32. Estrogen/progesterone receptor
33. Fecal globin
34. FLT 3 mutation
35. HER-2/neu
36. 5-HIAA
37. Human papillomavius hybrid capture
38. IgVH mutation analysis
39. Immunocyt
40. Kappa/lambda light chain
41. LAP
42. Lipid associated sialic acid
43. Melaris
44. MIB-1 antibody
45. Micrometastasis detection
46. Microsatellite instability
47. MLH1, MSH2, MSH6 mutations
48. Neuron specific enolase
49. Nuclear matrix proteins
50. Oncotype Dx
51. p53 tumor suppressor gene
52. PML/RARA translocation
53. PreGen-26
54. PreGen-Plus
55. Prostate-specific antigen
56. T-cell recepter gene rearrangment
57. TEL/AML1 gene fusion
58. Thyroglobulin
59. Tumor antigen 90 immune complex
60. Urokinase plasminogen activator
61. Urovysion
62. ZAP-70

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1. Acid phosphatase, total and prostatic
Test name Acid phosphatase, total and prostatic
Other names PAP
Description Elevated levels of this enzyme are found in patients with metastatic prostate cancer. PAP determination, in conjunction with PSA measurements, is useful in assessing the prognosis of prostate cancer. Concentrations of both the prostatic and nonprostatic forms of acid phosphatase may be differentiated using tartrate. The activity of the prostatic form of the enzyme is inhibited in the presence of tartrate.
Purpose Prognostic, recurrence, monitoring
Availability Commercial laboratories, academic hospitals
Specimen Serum, frozen
Methodology

ICMA

Spectrophotometry - alpha-naphthol phosphate substrate with tartrate inhibition for prostatic AcP determination
Cancers Prostate cancer
Clinical use(s)
  a) Routine:
  • used as an adjunct in confirming the clinical staging of prostate cancer.
  • used with PSA to detect recurrence of prostate cancer in patients who have been treated.
Source of information LabCorp, Specialty Laboratories, UpToDate™ Web sites
Exploratory Medline search (5/25/05)
  1. “Acid phosphatase” = 2010 citations, “prostate” = 6127 citations
  2. “Acid phosphatase” and “prostate” = 102 citations
  3. “Acid phosphatase” and “prostatic neoplasm” (24856) = 111 citations
  4. “Total acid phosphatase” (21) and “prostatic neoplasm” = 4 citations

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2. Adrenocorticotropic hormone
Test name Adrenocorticotropic hormone
Other names ACTH hormone
Description ACTH has been used in diagnosing disorders of the hypothalamicpituitary system. It is useful in the differential diagnosis of Cushing syndrome, ectopic ACTH syndrome, Addison disease, hypopituitarism, and ACTH-producing pituitary tumors (e.g., Nelson syndrome). The most common causes of ectopic ACTH syndrome are small (oat)-cell carcinomas, carcinoid tumors, particularly bronchial carcinoids, islet cell tumors, and pulmonary tumorlets.
Purpose Diagnostic
Availability Commercial laboratories, academic hospitals
Specimen plasma
Methodology ICMA
Cancers pituitary, adrenal
Other cancers Carcinoid, thyroid, pulminary, pancreas
Clinical use(s)
  a) Routine:
  • Used in the diagnosis of ectopic ACTH syndrome associated with small cell carcinoma, carcinoid tumors, and islet cell tumors.
Source of information Quest Diagnostics, LabCorps, Specialty Laboratories, UpToDate™
Exploratory Medline search (5/26/05)
  1. “corticotropin” = 6949 citations, “pituitary gland” = 11,858 citations.
  2. “pituitary neoplasm” = 4542 citations
  3. “corticotropin” and “pituitary gland” = 1,873 citations
  4. “corticotropin” and “pituitary neoplasm” = 423 citations
  5. “corticotropin” and “ACTH syndrome, ectopic” = 84 citations

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3. Alpha-Fetoprotein
Test name Alpha-Fetoprotein
Other names AFP
Description Elevated serum AFP levels are most closely associated with nonseminomatous testicular cancer and hepatocellular cancer. The rate of clearance from serum after treatment is an indicator of the effectiveness of therapy. Conversely, the growth rate of progressive disease can be monitored by serially measuring serum AFP concentrations over time.
Purpose Secondary prevention, prognostic, recurrence, monitoring
Availability Commercial laboratories, academic hospitals
Specimen Serum protein
Methodology ICMA
Cancers Non-seminomatous testicular, hepatocellular
Other cancers AFP may also be elevated in malignant germ cell tumors of ovary and testis, gastrointestinal, pancreatic, pulmonary cancer.
Clinical use(s)
  a) Routine:
  • distinguish between seminomatous and non-seminomatous testicular germ cell cancer
  • monitor effectiveness of therapy and detect recurrence in individuals with non- seminomatous testicular germ cell cancer
  • monitor effectiveness of therapy in individuals with hepatocellular carcinoma
  • monitor hepatitis B carriers for evidence of liver cancer
Clinical use(s)
  b) Investigational
  • elevated serum concentrations of AFP are found in 23 percent of patients with pancreatic, gastric (18 percent), bronchogenic (7 percent) and colonic carcinoma (5 percent), compared to 75 percent of patients with non-seminomatous testicular cancer and 72 percent of patients with hepatocellular cancer
Source of information Quest Diagnostics, LabCorp, Specialty Laboratories Web sites
Exploratory Medline search (5/12/05)
  1. “alpha-Fetoproteins” = 2608 citations, “testicular neoplasms” = 4,401 citations
  2. “alpha-Fetoproteins” and “testicular neoplasm” = 113 citations
  3. “alpha-Fetoproteins” and “carcinoma, hepatocellular” (13840) = 704 citations
  4. “alpha-Fetoproteins” and “pancreatic neoplasms” (12117) = 27 citations
  5. “alpha-Fetoproteins” and “gastrointestinal neoplasms” (64300) = 133 citations
  6. “alpha-Fetoproteins” and “lung neoplasms” (36152) = 46 citations
  7. “alpha-Fetoproteins” and “ovarian neoplasms”(15334) = 64 citations

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4. AML1/ETO translocation
Test name AML1/ETO translocation
Other names t(8:21)
Description The translocation t(8;21)(q22;q22) is one of the most common structural chromosomal aberrations in patients with Acute Myeloid Leukemia (AML). AML with t(8;21) has a mean onset age of about 30 years and is most common in children and younger adults; it is relatively rare in elderly patients. The presence of t(8;21) is associated with the highest complete remission rate (90 percent) and the highest probability (50 percent-70 percent) of remaining in complete remission at 5 years. However, the disease may become resistant to therapy upon relapse.
Purpose Diagnostic, prognostic, recurrence, monitoring
Availability Commercial laboratories, academic hospitals
Specimen Whole blood, bone marrow
Methodology PCR
Cancers Acute myeloid leukemia
Clinical use(s)
  a) Routine:
  • Diagnosis of acute myeloid leukemia (AML) with t(8;21) chromosome translocation
  • monitor treatment response
  • Detect minimal residual disease (MRD or evidence for the presence of residual cancer cells, even when so few malignant cells are present that they cannot be detected by routine means)
  • Predict early relapse
Source of information Quest Diagnostics, LabCorp, UpToDate™
Exploratory Medline search (6/01/05)
  1. “AML1” = 853 citations, “ETO” = 469 citations
  2. “Leukemia, Myelocytic, Acute” = 4,057 citations
  3. “fusion protein” = 12,573 citations
  4. “Leukemia, Myelocytic, Acute” and “fusion protein” = 138 citations
  5. “AML1” and “ETO” = 138 citations

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5. B-cell gene rearrangement
Test name B-cell gene rearrangement
Description These additional studies are used to establish a definitive diagnosis. They include molecular analysis of tumor material using PCR technology to identify gene rearrangements known to be associated with B-cell malignancies. Additionally the special tests can sometimes help to establish both the lineage and the presence of prognostically significant subtypes of malignant lymphoma.
Purpose Diagnostic, prognostic, recurrence
Availability Commercial laboratories, academic hospitals
Specimen Whole blood, bone marrow, or tissue
Methodology PCR
Cancers B-cell malignancies
Clinical use(s)
  a) Routine:
  • Diagnosis of B-cell malignancies
  • Assist in determining disease prognosis and thus influence treatment selection
  • Detection of minimal residual disease or recurrent disease
Source of information Quest Diagnostics, LabCorps Web sites
Exploratory Medline search (6/01/05)
  1. “B-Lymphocytes” = 17,852 citations, “leukemia” = 38,022 citations
  2. “B-Lymphocytes” and “leukemia” = 1,047 citations
  3. “gene rearrangement” = 6,400 citations
  4. “B-Lymphocytes” and “gene rearrangement” = 1,285 citations
  5. “leukemia” and “gene rearrangement” = 1,044 citations

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6. bcl-1/JH t(11;14) Gene Rearrangement
Test name bcl-1/JH t(11;14) Gene Rearrangement
Other names t(11;14)
Description The t(11;14)(q13;q32) rearrangement causes deregulation of the bcl-1 gene and over-expression of cyclin D1, which may in turn lead to lymphoma genesis. The bcl-1 translocation is specific for mantle cell lymphoma
Purpose Diagnostic, prognostic, monitoring
Availability Commercial laboratories, academic hospitals
Specimen Whole blood, bone marrow, tissue
Methodology PCR
Cancers Mantle cell lymphoma
Clinical use(s)
  a) Routine:
  • Diagnosis of mantle cell lymphoma
  • Assessment of therapeutic response
  • Detect minimal residual disease (MRD)
  • Predict early relapse
Source of information Quest Diagnostics, LabCorp
Exploratory Medline search (6/01/05)
  1. “genes, bcl-1” = 124 citations, “translocation” = 7,571 citations
  2. “mantle cell lymphoma” = 522 citations
  3. “cyclin D1” = 2,811 citations
  4. “mantle cell lymphoma” and “cyclin D1” = 84 citations

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7. BCL-2 translocation
Test name BCL-2 translocation
Other names t(14:18)
Description The bcl-2 gene translocation, t(14;18), is the rearrangement of the bcl-2 proto-oncogene on chromosome 18 with the immunoglobulin heavy chain region on chromosome 14. The bcl-2 translocation is a characteristic of Bcell lymphomas. It is observed in 70 to 90 percent of follicular non-Hodgkin B-cell lymphomas, 20 to 30 percent of large diffuse B-cell lymphomas, and 50 percent of undifferentiated B-cell lymphomas, but not in other lymphomas.
Purpose Diagnostic, prognostic, recurrence, monitoring
Availability Commercial laboratories, academic hospitals
Specimen Blood, marrow, tissue
Methodology PCR
Cancers B-cell lymphomas
Clinical use(s)
  a) Routine:
  • Distinguish lymphoma from benign lymphoid hyperplasia
  • Distinguish B-cell lymphoma from T-cell lymphoma
  • Determine prognosis for patients with B-cell lymphomas
  • Monitor B-cell lymphoma patients for minimal residual disease or evidence of recurrence
Source of information Quest Diagnostics, UpToDate™ Web sites
Exploratory Medline search (6/01/05)
  1. “Translocation, Genetic”= 7,571 citations
  2. “BCL-2 gene” = 1,894 citations
  3. “Lymphoma, B-Cell”= 9,217 citations
  4. “BCL-2 gene” and “Lymphoma” = 92 citations

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8. BCR-ABL
Test name BCR-ABL
Other names Philadelphia chromosome
Description Bcr/abl fusion gene, formed by rearrangement of the breakpoint cluster region (bcr) on chromosome 22 with the c-abl proto-oncogene on chromosome 9, is present in 95 percent of CML patients and 30 percent of ALL patients. Identification of bcr/abl rearrangement is important for the diagnosis of CML, whereas in ALL, presence of bcr/abl is associated with poor prognosis and may warrant more aggressive therapy. In both diseases, increasing levels of bcr/abl may be associated with clinical progression.
Purpose Diagnostic, prognostic, recurrence, monitoring
Availability Commercial laboratories, academic hospitals
Specimen Whole blood, bone marrow RNA
Methodology PCR, FISH
Cancers Chronic Myelogenous Leukemia (CML), Acute Lymphocytic Leukemia (ALL)
Clinical use(s)
  a) Routine:
  • Assist in diagnosis of CML
  • Assess prognosis in ALL patients
  • Detect minimal residual disease and monitor effectiveness of therapy
  • Predict early relapse
Source of information Quest Diagnostics, LabCorp, Specialty Labs Web sites, UpToDate™
Exploratory Medline search (5/12/05)
  1. “fusion proteins, bcr-abl” or “Philadelphia Chromosome” = 2,008 citations
  2. “leukemia, myeloid, chronic” = 4,926 citations
  3. “leukemia, lymphocytic, acute” = 4,027 citations
  4. “fusion proteins, bcr-abl” or “Philadelphia Chromosome” and “myeloid leukemia, chronic” = 1,119 citations
  5. “fusion proteins, bcr-abl” or “Philadelphia Chromosome” and “leukemia, lymphocytic, acute” = 151 citations

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9. Beta human chorionic gonadotropin
Test name Beta human chorionic gonadotropin
Other names beta-HCG
Description beta-hCG is detectable in the serum of 70 percent of patients with nonseminomatous germ-cell tumors. Patients with a prolonged half life of beta -hCG (>3.5 days) have an inferior overall and disease-free survival and may be candidates for high dose chemotherapy. In germ cell tumors in the male, beta-hCG and alpha-fetoprotein are both useful tumor markers.
Purpose Diagnostic, recurrence, monitoring
Availability Commercial laboratories, academic hospitals
Specimen Serum
Methodology ICMA
Cancers Germ cell tumors (e.g., teratoma, struma ovarii, dysgerminoma, yolk sac tumor, embryonal carcinoma, and choriocarcinoma)
Other cancers Lung, pancreas, liver, stomach
Clinical use(s)
  a) Routine:
  • assist in the diagnosis of germ-cell tumors
  • monitor response to trophoblastic tumor therapy
  • detect disease recurrence
Clinical use(s)
  b) Investigational
  • Monitor lung, pancreas, liver, stomach cancers
Source of information LabCorp, UpToDate™, Specialty Labs Web sites
Exploratory Medline search (6/01/05)
  1. “germinoma” = 2,695 citations
  2. "Chorionic Gonadotropin, beta Subunit, Human” = 1,148 citations
  3. “Chorionic Gonadotropin, beta Subunit, Human” and “germinoma” = 67 citations

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10. Beta 2-microglobulin
Test name Beta 2-microglobulin
Description

Beta 2-microglobulin is increased nonspecifically in active chronic lymphocytic leukemia in which there is increased lymphocyte turnover. Elevated levels of beta 2-microglobulin can be found in cerebral spinal fluid (relative to serum) in acute lymphoblastic leukemia, lymphoma, and other lymphoproliferative disorders. (Lymphoproliferative disorders refers to a group of malignant diseases involving the lymphoid cells and cells from the reticuloendothelial system, including lymphoma and posttransplant lymphoproliferative disorder). Increased serum concentrations of beta 2-microglobulin are good predictors of complete response and time to treatment failure in low-grade lymphoma.
Purpose Diagnostic, prognostic
Availability Commercial laboratories, academic hospitals
Specimen Serum
Methodology ICMA
Cancers Lymphoma, Hodgkin’s and Non-Hodgkin’s Lymphoma
Other cancers Multiple myeloma, chronic lymphocytic leukemia, and other indolent lymphomas
Clinical use(s)
  a) Routine:
  • Assist in diagnosis of lymphoma and other lymphoproliferative diseases
  • Predictive of response of low grade lymphoma
Source of information LabCorp, Specialty Labs, UpToDate™
Exploratory Medline search (6/01/05)
  1. “Lymphoproliferative Disorders” = 57,926 citations
  2. “Leukemia, Lymphocytic, Chronic” = 3,353 citations
  3. “beta 2-Microglobulin” = 2,093 citations
  4. “Lymphoproliferative Disorders” and “beta 2-Microglobulin” = 195 citations
  5. “Leukemia, Lymphocytic, Chronic” and “beta 2-Microglobulin” = 19 citations

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11 . Bladder Tumor Antigen
Test name Bladder Tumor Antigen
Other names BTA
Description

A biomarker that is currently being investigated for use in surveillance following initial treatment of superficial bladder cancer.
Purpose Recurrence, monitoring
Availability Commercial laboratories, academic hospitals
Specimen Urine
Methodology Cytology, EIA
Cancers Bladder
Other cancers Kidney and ureter
Clinical use(s)
  b) Investigational
  • Detection of tumor recurrence
Source of information Quest Diagnostics, LabCorp, UpToDate™ Web sites
Exploratory Medline search (6/01/05)
  1. “bladder neoplasms” = 9,404 citations
  2. “tumor markers, biological” = 50,524 citations
  3. “bladder neoplasms” and “tumor markers, biological” = 1,090 citations

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12. BRCA Analysis
Test name BRCA Analysis
Other names BRCA1, BRCA2
Description BRCA1 and BRCA2 are two susceptibility genes for breast cancer that are inherited in an autosomal dominant fashion and account for one-fifth of the familial risk of breast cancer. BRCA mutations are found in between 1 and 3.3 percent of American women with breast cancer who are unselected for family history. However, the prevalence of a deleterious BRCA1 or BRCA2 mutation in women of Ashkenazi Jewish (Eastern European) descent is approximately 2 percent.
Purpose Primary prevention, prognostic
Availability Commercial laboratories, academic hospitals
Specimen Whole blood
Methodology PCR
Cancers Breast, ovarian
Other cancers Prostate, lymphoma, melanoma, cancers of the gallbladder, pancreas, stomach
Clinical use(s)
  a) Routine:
  • Detection of BRCA1 and BRCA2 mutations which are associated with the majority of hereditary breast and ovarian cancers
  • Presence of BRCA1/2 gene mutations in patients with breast cancer may influence their treatment and management of their disease
  • Presence of BRCA1/2 gene mutations in a cancer patient may also result in additional testing for the mutation in family members of the BRCA positive patient
Source of information Quest, LabCorp, UpToDate™ Web sites
Exploratory Medline search (8/02/05)
  1. “Breast Neoplasms” = 57,232 citations
  2. “genes, BRCA1 or genes, BRCA2” = 2,188 citations
  3. “Breast Neoplasms” and “genes, BRCA1 or genes, BRCA2” = 1,597 citations

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13. Calcitonin
Test name Calcitonin
Description High concentrations of calcitonin occur in patients with malignant parafollicular or C-cell tumors of the thyroid gland. The doubling time of serum levels of this hormone correlates with recurrence of tumors.
Purpose Secondary prevention, diagnostic, prognostic, recurrence
Availability Commercial laboratories, academic hospitals
Specimen Serum, frozen
Methodology ICMA
Cancers Thyroid gland
Other cancers Lung, breast, carcinoids, islet cell tumors, APUDomas
Clinical use(s)
  a) Routine:
  • Detection of C-cell hyperplasia (the precursor of medullary carcinoma of thyroid)
  • Used as a tumor marker for diagnosis and management of medullary carcinoma of the thyroid gland
Clinical use(s)
  b) Investigational
  • Preoperative serum calcitonin is reported to roughly correlate with tumor weight or extent of disease
Source of information LabCorps, Specialty Laboratories, Quest, UpToDate™ Web sites
Exploratory Medline search (08/02/05)
  1. “calcitonin” = 2,434 citations
  2. “thyroid neoplasms” = 9,062 citations
  3. “calcitonin” and “thyroid neoplasms” = 311 citations

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