The Chromosome Pathology Unit (CPU)was set up in 2010 to fulfill the need in the """"""""in house"""""""" laboratory FISH tests required to support clinical trials at NCI. FISH diagnostics will be an integral part of the Pathology molecular diagnostics currently offered by the Lab of Pathology. The sensitivity and specificity of FISH diagnostics was found to be near 100% in recent reports of CAP that puts them in front line among other available tests based on PCR and immunohistochemistry that have a long-known specificity problem. The Unit has been equipped as state-of-the art laboratory that includes a new Zeiss epifluorescence microscope with the ApoTome feature that allows FISH analysis and imaging of thick tissue sections, SKY-cube for spectral karyotyping - a modern tool for the detection of chromosomal translocations in cancer cells and various hereditary syndromes. All small equipment to measure the DNA quantity, run PCR to validate the FISH data, the CO2 incubator to grow cells were purchased as well. The developed/ validated tests include Her-2 amplification in Breast Cancer Patients, cmyc translocation in Burkitt, and Diffuse Large B Cell Lymphomas, 1p/19q deletion tests as prognostic and diagnostic markers for brain tumors, Bcl-2 translocation detection in Follicular Lymphoma and other hematological malignancies, Alk-4 translocation in lung, hematological and pediatric cancers. Other tests that are in the pipeline include Urovision (Abbott) for the detection of altered cells in Bladder Cancer, TFE-3 translocation in kidney tumors, EML-4 translocation in lung cancer, EWSR1, FLI1 translocations in pediatric tumors (Ewing's sarcoma and Rabdomyosarcoma), etc. The lab is in the process to undergo CAP certification to start accepting patient samples for diagnostics.
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