Database 2: One page profiles of current genetic tests (Continued)

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31. Epidermal growth factor receptor

Test name	Epidermal growth factor receptor
Other names	EGFR pharmDx, HER-1, Cetuximab (Erbitux) sensitivity
Description	Dysregulation of the EGFR signaling pathway due to EGFR overexpression, genetic aberrations, or other causes leads to malignant transformation. Cetuximab inhibits binding of EGFR by EGF and transforming growth factor-α, thereby blocking downstream signal transduction pathways and arresting cell growth.
Purpose	Diagnostic
Availability	Commercial laboratories, academic hospitals
Specimen	Tissue
Methodology	IHC
Cancers	Breast, prostate, lung, colorectal
Other cancers	Head and neck
Clinical use(s)   a) Routine:	Determine eligibility for cetuximab (Erbitux™) treatment
Source of information	Quest Diagnostics and UpToDate™ Web sites
Exploratory Medline search (8/2/05)	“receptor, epidermal growth factor” = 6,983 citations “lung neoplasms or colorectal neoplasms or breast neoplasms or prostatic neoplasms” = 151,099 citations “receptor, epidermal growth factor” and (b) = 1,358 citations

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32. Estrogen/progesterone receptor

Test name	Estrogen/progesterone receptor
Other names	ER/PR
Description	Breast cancers are dependent upon estrogen and/or progesterone for growth and this effect is mediated through ERs and progesterone receptors (ER/PR). Both receptors may be over-expressed in malignant breast tissue.
Purpose	Diagnostic, prognostic
Availability	Commercial laboratories, academic hospitals
Specimen	Tissue
Methodology	IHC
Cancers	Breast
Clinical use(s)   a) Routine:	Predicts response to hormone therapy for women with advanced breast cancer and those receiving adjuvant treatment. Prognosticates the aggressiveness of a tumor.
Source of information	UpToDate™ Web site
Exploratory Medline search (8/2/05)	“receptors, estrogen” = 10,705 citations “receptors, progesterone” = 3,898 citations “breast neoplasms” = 57,603 citations “receptor, estrogen” and “receptors, progesterone” and “breast neoplasm” = 1,452 citations

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33. Fecal globin

Test name	Fecal globin
Other names	InSure, FOBT
Description	Cancerous and precancerous colorectal lesions tend to cause low-level bleeding. Annual screening with a fecal occult blood test (FOBT) can decrease colorectal cancer mortality by up to 33 percent.
Purpose	Secondary prevention
Availability	Commercial laboratories, academic hospitals
Specimen	Stool
Methodology	IHC
Cancers	Colorectal
Clinical use(s)   a) Routine:	Screen for lower gastrointestinal bleeding associated with colorectal cancer, adenomas, polyps, and other lower gastrointestinal conditions
Source of information	Quest diagnostics, UpToDate™ Web sites
Exploratory Medline search (8/2/05)	“occult blood” = 1,087 citations “colorectal neoplasm” = 37,826 citations “occult blood” and “colorectal neoplasm” = 825 citations

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34. FLT 3 mutation

Test name	FLT 3 mutation
Description	Mutations in FLT3 are common in AML and have been associated with poorer survival in children and in younger adults with normal cytogenetics receiving intensive chemotherapy.
Purpose	Prognostic
Availability	Quest Diagnostics
Specimen	Blood
Methodology	PCR
Cancers	Acute myelogenous leukemia (AML)
Clinical use(s)   a) Routine:	Predict survival in AML patients
Source of information	Quest Diagnostics and UpToDate™ Web sites
Exploratory Medline search	“receptor, protein, tyrosine kinase” = 28,203 citations “leukemia, myelocytic, acute” = 4,151 citations “receptor, protein, tyrosine kinase” and “leukemia, myelocytic, acute” = 125 citations

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35. HER-2/neu

Test name	HER-2/neu
Other names	c-erbB-2, trastuzumab (Herceptin) eligibility, HercepTest, PathVysion®
Description	HER-2/neu is an oncogene encoding a growth factor receptor related to epidermal growth factor receptor (EGFR) and is amplified in approximately 25-30 percent of node-positive breast cancers. Overexpression of HER-2/neu is associated with decreased disease-free and overall survival. Over-expression of HER-2/neu may be used to identify patients who may be may benefit from trastuzumab (Herceptin™ ) and/or high dose chemotherapy. Trastuzumab is a humanized monoclonal antibody targeting the HER 2/neu (c-erbB-2) oncogene.
Purpose	Diagnostic, prognostic
Availability	Commercial laboratories, academic hospitals
Specimen	Tumor tissue, serum
Methodology	IHC, FISH, EIA
Cancers	Breast
Other cancers	HER2/neu may also be expressed in ovarian, gastric, colorectal, endometrial, lung, bladder, prostate, and salivary gland cancers.
Clinical use(s)   a) Routine:	Assess prognosis of stage II, node positive breast cancer patients. Predict disease-free and overall survival in patients with stage II, node positive breast cancer treated with adjuvant cyclophosphamide, doxorubicin, 5-fluorouracil chemotherapy. Determine patient eligibility for Herceptin treatment. College of American Pathologists (CAP) recommends FISH as an optimal method for HER2/neu testing; therefore, positive IHC results are usually confirmed by FISH testing.
Clinical use(s)   b) Investigational	HER2/neu may also be expressed in ovarian, gastric, colorectal, endometrial, lung, bladder, prostate, and salivary gland.
Source of information	Quest Diagnostics, LabCorp, Specialty Labs Web sites, UpToDate™
Exploratory Medline search (5/12/05)	“receptor, erbB-2” = 4,028 citations “receptor, erbB-2” and “breast neoplasms” (55886) = 1,905 citations “receptor, erbB-2” and “ovarian neoplasms” (15334) = 239 citations

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36. 5-HIAA

Test name	5-HIAA
Other names	5-hydroxyindoleacetic acid
Description	A serotonin analysis is most frequently performed for the diagnosis of carcinoid tumors of the small intestine. These tumors release large amounts of serotonin, which can produce the clinical syndrome of flushing, diarrhea, and right-sided heart failure. 5-HIAA is the final metabolite of serotonin and is the most frequently used diagnostic test for carcinoid tumors.
Purpose	Diagnostic, prognostic
Availability	Commercial laboratories, academic hospitals
Specimen	Urine
Methodology	Liquid chromatography
Cancers	Carcinoid tumors
Clinical use(s)   a) Routine:	Diagnosis of metastatic carcinoid tumors
Clinical use(s)   b) Investigational	May be used as a prognostic factor in this disease; however, poor correlation exists between 5-HIAA level and clinical severity of carcinoid syndrome
Source of information	LabCorp, UpToDate™ Web sites
Exploratory Medline search (8/2/05)	“Hydroxyindoleacetic Acid” = 1,270 citations “Carcinoid tumor” = 2,255 citations “Hydroxyindoleacetic Acid” and “Carcinoid tumor” = 78 citations

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37. Human papillomavirus hybrid capture

Test name	Human papillomavirus hybrid capture
Other names	HPV, ThinPrep
Description	Human papillomavirus (HPV) infection is a common infection that is associated with cancer. Although HPV infection does not always progress to cancer, > 93 percent of cervical cancer cases are associated with HPV. This test detects 13 viral strains that are associated with an intermediate to high risk of cancer.
Purpose	Secondary prevention
Availability	Commercial laboratories, academic hospitals
Specimen	Pap smear
Methodology	DNA probe cocktail
Cancers	Cervical cancer
Clinical use(s)   a) Routine:	Determine need for colposcopy in individuals with atypical squamous cells of uncertain significance (ASCUS) found on Pap test Assist in guiding patient management (as adjunct to cervical cytology)
Source of information	Quest Diagnostics, UpToDate™ Web sites
Exploratory Medline search (8/02/05)	“Papillomavirus, Human” = 6,318 citations “Cervix Neoplasms” = 12,280 citations “Papillomavirus, Human” and “Cervix Neoplasms” 2,661 citations

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38. IgVh mutation analysis

Test name	IgVh mutation analysis
Description	Chronic lymphocytic leukemia (CLL) patients can be divided into two basic groups on the basis of the mutational status of the immunoglobulin heavy-chain variable-region (IgVH) gene in leukemic cells. Patients with IgVH mutations have longer survival than those without IgVH mutation. Thus, mutation analysis may be useful for planning management strategies.
Purpose	Prognostic
Availability	Commercial laboratories, academic hospitals
Specimen	Blood, marrow
Methodology	PCR
Cancers	Chronic lymphocytic leukemia (CLL)
Clinical use(s)   a) Routine:	Assess prognosis for patients with CLL.
Source of information	Quest Diagnostics and UpToDate™ Web sites
Exploratory Medline search (8/2/05)	“Immunoglobulin Variable Region” = 3,919 citations “Leukemia, Lymphocytic, Chronic” = 3,422 citations “Immunoglobulin Variable Region” and “Leukemia, Lymphocytic, Chronic” = 126 citations

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39. ImmunoCyt

Test name	ImmunoCyt
Other names	Mucin, CEA
Description	An immunocytochemistry assay for the detection of tumor cells shed in the urine of patients previously diagnosed with bladder cancer. This test is intended to augment the sensitivity of cytology for the detection of tumor cells in the urine of individuals previously diagnosed with bladder cancer.
Purpose	Recurrence, monitoring
Availability	Commercial laboratories, academic hospitals
Specimen	Urine
Methodology	Cytology, ICC
Cancers	Bladder cancer
Clinical use(s)   a) Routine:	Detection of tumor cells in the urine of individuals previously diagnosed with bladder cancer Indicated for use in conjunction with cytoscopy as an aid in the management of bladder cancer
Source of information	LabCorp and UpToDate™ Web sites
Exploratory Medline search (8/2/05)	“Carcinoembryonic Antigen” = 2,785 citations “Bladder Neoplasms” = 9,483 citations “Carcinoembryonic Antigen” and “Bladder Neoplasms” = 33 citations

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40. Kappa/lambda light chain

Test name	Kappa/lambda light chain
Description	Elevated serum levels of monoclonal free light chains are associated with malignant plasma cell proliferation (e.g., multiple myeloma), primary amyloidosis, and light chain deposition disease. The appearance of higher levels of free light chains in the urine may be indicative of kidney disease or malignant lymphoproliferative disease such as multiple myeloma.
Purpose	Monitoring
Availability	Commercial laboratories, academic hospitals
Specimen	Serum, tissue, urine
Methodology	IHC
Cancers	Multiple myeloma, lymphoproliferative disorders
Other cancers	Primary amyloidosis, light chain deposition disease
Clinical use(s)   a) Routine:	Detection of multiple myeloma
Source of information	Quest Diagnostics, UpToDate™ Web sites
Exploratory Medline search (8/2/05)	“immunoglobulins, light chains” = 2,376 citations “multiple myeloma” = 6,154 citations “lymphoproliferative disorders” = 59,066 citations “immunoglobulins, light chains” and “multiple myeloma” = 258 citations “immunoglobulins, light chains” and “lymphoproliferative disorders” = 534 citations

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41. LAP

Test name	LAP
Other names	Leukocyte alkaline phosphatase
Description	Low LAP scores have been associated with CML, PNH, and thrombocytopenic purpura. In CML, regardless of the total WBC, the LAP score remains low. High LAP scores have been seen in polycythemia vera, myelofibrosis, aplastic anemia, hairy cell leukemia, leukemoid reactions, and Hodgkin's disease.
Purpose	Diagnostic, monitoring
Availability	Commercial laboratories, academic hospitals
Specimen	Blood, bone marrow
Methodology	Enzyme assay
Cancers	Chronic myelocytic leukemia (CML)
Other cancers	Polycythemia vera, myelofibrosis, aplastic anemia, paroxysmal nocturnal hemoglobinuria, hairy cell leukemia, leukemoid reactions, lymphoma
Clinical use(s)   a) Routine:	Aids in differential diagnosis of chronic myelocytic leukemia vs. leukamoid reaction Aids in evaluation of polycythemia vera, myelofibrosis with myeloid metaplasia, and paroxysmal nocturnal hemoglobinuria
Clinical use(s)   b) Investigational	Serial LAP scores can be a useful adjunct in evaluating the activity in Hodgkin's disease, as well as its response to therapy.
Source of information	Quest Diagnostics, UpToDate™ Web sites
Exploratory Medline search (8/2/05)	“alkaline phosphatase ” = 7,889 citations “testicular neoplasm ” = 4,487 citations “alkaline phosphatase ” and “testicular neoplasm” = 34 citations

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42. Lipid associated sialic acid

Test name	Lipid associated sialic acid
Other names	LASA; Lipid-Bound Sialic Acid
Description	Elevations in blood LASA levels have been reported in patients with mammary (63 percent), gastroenteric (65 percent), pulmonary (79 percent), and ovarian (94 percent) neoplasms as well as those with leukemia (86 percent), lymphoma (87 percent), melanoma (84 percent), sarcoma (97 percent), and Hodgkin disease (91 percent). As a result, this assay may not have high specificity or sensitivity necessary for cancer detection.
Purpose	Recurrence, monitoring
Availability	Commercial laboratories, academic hospitals
Specimen	Serum
Methodology	Spectrophotometry
Cancers	Breast, lung, colorectal, pancreas, ovarian, liver, lymphoma, leukemia, melanoma, neuroblastoma, uterine, sarcoma
Clinical use(s)   b) Investigational	Monitoring the course of therapy Detecting disease recurrence
Source of information	LabCorps Web site
Exploratory Medline search (8/2/05)	“lipid associated sialic acid.mp” = 15 citations “N-acetylneuraminic acid” = 1,496 citations “neoplasms” = 571,042 citations “lipid associated sialic acid.mp” and “neoplasms” = 9 citations “N-acetylneuraminic acid” and “neoplasms” = 194 citations

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43. Melaris

Test name	Melaris
Other names	p16
Description	p16 is a tumor suppressor gene that regulates cellular proliferation and growth by acting as a cyclin-dependent kinase 4 (CDK4) inhibitor. This test determines if a patient has a p16 gene mutation, indicating a predisposition for melanoma and pancreatic cancer.
Purpose	Primary prevention
Availability	Myriadtests.com
Specimen	Blood
Methodology	PCR
Cancers	Melanoma, pancreas
Clinical use(s)   a) Routine:	Screening for hereditary melanoma
Source of information	Myriad Tests Web site
Exploratory Medline search (8/2/05)	“genes, p16” = 990 citations “melanoma” = 17,770 citations “neoplasms, pancreatic” = 12,470 citations “genes, p16” and “melanoma” = 136 citations “genes, p16” and “pancreatic neoplasms” = 66 citations

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44. MIB-1 antibody

Test name	MIB-1 antibody
Other names	Ki-67 antigen
Description	There is a strong correlation between proliferation rate and clinical outcome in a variety of tumor types and measurement of cell proliferative activity is an important prognostic marker. This marker correlates with flow cytometric S-phase.
Purpose	Prognostic
Availability	Commercial laboratories, academic hospitals
Specimen	Tissue
Methodology	IHC
Cancers	Breast, lymphomas, anaplastic large cell non-Hodgkin's lymphoma
Clinical use(s)   a) Routine:	Tissue marker for large cell non-Hodgkin's lymphoma Assess tumor proliferative rate, determine disease prognosis Direct disease management
Source of information	Quest Diagnostics, LabCorp, Specialty Laboratories Web sites
Exploratory Medline search (8/02/05)	“Ki-67 Antigen” = 4,840 citations “Lymphoma, Non-Hodgkin” = 22160 citations “Ki-67 Antigen” and “Lymphoma, Non-Hodgkin” = 117 citations

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45. Micrometastasis detection

Test name	Micrometastasis detection
Other names	Cytokeratins
Description	Cytokeratins are expressed by both normal and malignant epithelial cells, but not by lymph node or bone marrow cells. Thus, the presence of cytokeratin-positive cells in lymph nodes or the bone marrow is suggestive of metastatic tumor. Multiple chromosomal aberrations in these suspected cytokeratin-positive micrometastases further substantiate that these cells are tumor cells.
Purpose	Recurrence, monitoring
Availability	Commercial laboratories, academic hospitals
Specimen	Marrow, tissue
Methodology	IHC
Cancers	Breast
Clinical use(s)   a) Routine:	Detect micrometastases of epithelial cell origin (e.g., breast cancer) Determine the stage of epithelial cancers Predict cancer recurrence/relapse and overall prognosis
Source of information	Specialty Laboratories, Quest Diagnostics Web sites
Exploratory Medline search (8/2/05)	“cytokeratin” or “keratin” = 8,784 citations “Breast Neoplasms” = 57,603 citations “Neoplasm Metastasis” = 32,119 citations “cytokeratin” or “keratin” and “Breast Neoplasms” and “Neoplasm Metastasis” = 263 citations

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46. Microsatellite instability

Test name	Microsatellite instability
Other names	MSI, BAT 26, RER+
Description	MSI is a marker for faulty DNA repair and is found in 90 percent of patients with hereditary non-polyposis colorectal cancer (HNPCC) but in only 15 percent of sporadic colorectal tumors. HNPCC (Lynch syndrome) is characterized by an autosomal dominant inheritance pattern of early-onset predisposition to colorectal cancer (average age 44 years). MSI is helpful in determining if colorectal cancer is due to HNPCC and whether further genetic testing of patients or their family members for HNPCC-associated mutations.
Purpose	Primary and secondary prevention, diagnostic, prognostic
Availability	Commercial labs, academic institutions
Specimen	Blood, tumor tissue DNA
Methodology	HPCR
Cancers	Hereditary non-polyposis colorectal cancer
Clinical use(s)   b) Investigational	Identify colorectal tumors with high microsatellite instability Identify individuals at risk for HNPCC Identifying HNPCC in affected patients is also important since close surveillance of at-risk family members has been found to reduce the rate of colorectal cancer and overall mortality by > 60 percent
Source of information	Quest Diagnostics, LabCorp, Specialty Labs Web sites, UpToDate™
Exploratory Medline search (5/12/05)	“microsatellite repeats” = 15,030 citations “colorectal neoplasms” = 36,712 citations “colorectal neoplasms, hereditary nonpolyposis” = 1,318 citations “microsatellite repeats” and “colorectal neoplasms” = 1,217 citations “microsatellite repeats” and “colorectal neoplasms, hereditary nonpolyposis” = 410 citations

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