The molecular diagnostics laboratory processed approximately 1011 unique clinical samples in 2008 on NCI/NIH patients, accounting for over 3500 tests. Another 300+ tests were performed to support a variety of translational research projects, for NCI/NIH PIs. The majority of the laboratory's tests are conventional PCR assays, including both DNA and RT-PCR assays. The assays performed by the molecular diagnostics laboratory include assays for B and T-cell clonality, assays for lymphoma related translocations, assays for cancer associated viruses (EBV, HTLV, HHV-8), and RT-PCR assays for translocations associated with pediatric sarcomas. Quantitative PCR is performed for HTLV 1/2 to follow viral load for the Metabolism Branch's ATL clinical trials. KRAS and EGFR mutation analysis is performed to assess eligibility and response to EGFR-targeted therapies. Currently we are developing assays to assess BRAF, AKT and PIK3CA mutation, EGFRvIII presence, and MGMT methylation in a variety of cancers. The laboratory's developmental research effort is focused on the application of next generation sequencing technologies for clinical use, and the study of circulating DNA biomarkers for cancer diagnostics. Assays are performed on materials derived from a variety of sources. Paraffin fixed tissue specimens account for about 60% of the samples and blood, 30%. The remaining 10% of samples are derived from fresh or frozen tissue, cerebrospinal fluid, and other body fluids. A high percentage of the paraffin section studies are complex and labor intensive, requiring macro or microdissection of specific components of lesional tissues, and are performed under the guidance of a fellow or staff pathologist. The molecular laboratory is particularly expert in extracting nucleic acids from small fragments of archival paraffin-embedded tissues, and our expertise in this area has been widely sought out in a number of laboratories within and outside of NIH. The laboratory maintains 4 Perkin-Elmer 9700 PCR platforms, one ABI 7900 real-time PCR machine, one ABI 3130xl capillary electrophoresis unit, and one Pyromark 24 pyrosequencing instrument. The molecular diagnostics laboratory supports translational research of both NCI and NIH researchers. Among the NCI and NIH tenured investigators and clinicians that have utilized the laboratory's resources are: Dr. Austin Barrett (NHLBI) Dr. Susan Bates (NCI) Dr. John Bennett (NIAID) Dr. Michael Bishop (NCI) Dr. Daniel Fowler (NCI) Dr. William Gahl (NHGRI) Dr. Giuseppe Giaccone (NCI) Dr. Steven Holland (NIAID) Dr. Elaine Jaffe (NCI) Dr. John Janik (NCI) Dr. Amy Klion (NHLBI) Dr. Robert Kreitman (NCI) Dr. Shivaani Kummar (NCI) Dr, Richard Little (NCI) Dr. Gerald Marti (FDA) Dr. Dean Metcalfe (NIAID) Dr. John Morris (NCI) Dr. Kenneth Olivier (NIAID) Dr. Stefania Pittaluga (NCI) Dr. Koneti Rao (NIAID) Dr. Phillip Scheinberg (NHLBI) Dr. Maria Tsokos (NCI) Dr. Maria Turner (NCI) Dr. Thomas Uldrick (NCI) Dr. Gulbu Uzel (NIAID) Dr. Wyndham Wilson (NCI) Dr. Neil Young (NHLBI)
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