HER2 FISH (Fluorescence In Situ Hybridization) Test

The test is used to identify breast cancer patients eligible for treatment with the cancer drug Herceptin (Trastuzumab) and to determine the prognosis of a stage II, node-positive breast cancer patient. The FDA approved FISH test can detect amplification of Her-2/neu oncogene that regulates cancerous tissue cell growth. Early and accurate HER2 testing of all breast cancer patients at primary diagnosis is essential for optimal disease management. The presence of Her2/neu amplification in the paraffin embedded tumor tissue indicates the patient is eligible for cancer treatment with the Herceptin.

Reference:

Slamon DJ, Clark GM, Wong SG, et al., “Human breast cancer: correlation of relapse and survival with amplification of the HER2/neu oncogene”, Science (1987);235: 177–182.

Wolff AC, Hammond ME, Schwartz JN, Hagerty KL, Allred DC, Cote RJ, Dowsett M, Fitzgibbons PL, Hanna WM, Langer A, McShane LM, Paik S, Pegram MD, Perez EA, Press MF, Rhodes A, Sturgeon C, Taube SE, Tubbs R, Vance GH, van de Vijver M, Wheeler TM, Hayes DF; American Society of Clinical Oncology; College of American Pathologists. American Society of Clinical Oncology/ College of American Pathologists guideline recommendations for human epidermal growth factor receptor 2 testing in breast cancer. J Clin Oncol. 2007 Jan 1; 25( 1): 118-45.

EGFR (Epidermal Growth Factor Receptor) Gene Mutation test

Recent studies have reported that somatic mutations in EGFR gene are detected in some subsets of pulmonary adenocarcinomas and they correlate with their responsiveness to tyrosine kinase inhibitors such as Gefitinib and Erlotinib. By using a highly selective Real-time PCR assay or DNA sequencing analysis, the most common somatic mutations in EGFR gene can be detected in fresh, frozen or paraffin embedded tumor tissues. The test is an important adjunct to decision making on treatment with and prediction of response to tyrosine kinase inhibitors in a subset of lung cancer patients.

Reference:

Lynch TJ, Bell DW, Sordella R et al. Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. N Engl J Med 2004; 350: 2129-2139.

Raffaella Sordella, Daphne W.Bell, Daniel A.Haber, Jeffrey Settleman.  Gefitinib-Sensitizing EGFR Mutations in Lung Cancer Activate Anti-Apoptotic Pathways. Science 305, 1163-1167.

Pasi A. Janne et al. Epidermal Growth Factor Receptor Mutations in Non-Small Cell lung Cancer : Implications for Treatment and Tumor Biology. Journal of Clinical Oncology, 2005(23): 3227-3234.

HPV (Human Papillomavirus) Test

Human papillomavirus (HPV) is recognized as the primary causal factor in the development of cervical cancer. High–risk HPV types are found in 99.7% of cervical cancer cases and are specific biomarkers for cervical cancer screening and diagnosis. Early detection of high–grade cervical disease and appropriate follow–up of HPV–positive women can prevent the vast majority of invasive cervical cancers. The FDA approved Digene HPV test is used to detect the specific DNA sequences of the high–risk oncogenic HPV types (such as types 16, 18) in the cells collected from cervix. The HPV test may be done at the same time as the Pap test. It provides an objective risk indicator for the development of high–grade cervical disease and cancer. The results of HPV test can help to decide if further tests or treatments are needed.

The test is used to check for high-risk HPVs in (1) women who had a Pap test that showed abnormal cervical cells called atypical squamous cells (ASC); (2) women older than age 30 as part of screening for abnormal cervical cells.

Reference:

Kulasingam SL, Hughes JP, Kiviat NB, Mao C, Weiss NS, Kuypers JM, Koutsky LA. Evaluation of human papillomavirus testing in primary screening for cervical abnormalities: comparison of sensitivity, specificity, and frequency of referral. JAMA. 2002 Oct 9;288(14):1749-57.

Ronco G, Segnan N, Giorgi-Rossi P, Zappa M, Casadei GP, Carozzi F, Dalla Palma P, Del Mistro A, Folicaldi S, Gillio-Tos A, Nardo G, Naldoni C, Schincaglia P, Zorzi M, Confortini M, Cuzick J; New Technologies for Cervical Cancer Working Group. Human papillomavirus testing and liquid-based cytology: results at recruitment from the new technologies for cervical cancer randomized controlled trial. J Natl Cancer Inst. 2006 Jun 7;98(11):765-74.