Molecular Diagnostics Core Laboratory

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The Molecular Diagnostics Section is currently the only CLIA and College of American Pathology approved clinical laboratory within the NCI certified for performing molecular oncology testing on pathology materials from NIH patients. In FY21 (July 2020 - June 2021) the molecular diagnostics laboratory processed 3500 unique clinical samples from NCI/NIH patients (2413 are FFPE tissue cases, 1087 are blood, bone marrow, CSF, pleural fluid specimens). The lab extracted 3500 DNA and 976 RNA samples. While 1017 cases were performed with COMPASS NGS assays and 1200 cases were performed with Methylation Arrays, the rest of clinical cases were tested with traditional molecular tests to meet clinical needs from NCI and other NIH institutes. The laboratory utilizes a variety of technologies to perform 6726 single or multiplex assays to continue to serve the Lab of Pathology and the NIH Clinical Center for clinical diagnosis and treatments, including conventional PCR, RT-PCR, qPCR, droplet digital PCR (ddPCR), capillary electrophoresis, pyrosequencing. The assays we performed included tests to identify B and T-cell clonality, translocations associated with pediatric sarcomas, cancer associated viruses (e.g., EBV, HTLV1, HHV8), BRAF, MYD88 mutations from blood, bone marrow, and final needle biopsies. These assays support 46 NCI clinical trials and 27 other NIH institutes trials (from NHGRI, NHLBI, NINID, NIDDK, and Urgent_ICU). The lab also performed over 1000 tests for bi-annual CAP proficiency or alternative proficiency tests, quality controls (positive, negative, no template controls) for each PCR assay in weekly batch. QC and QM performance for clinical testing took about 15-20% of the core laboratory's reagent costs. With delivering molecular test results to pathologists and clinical teams for patient cares, the molecular lab is responsible for training and education of pathology residents and fellows. Each of the first-year resident/fellows rotated to the molecular lab for one months. The molecular lab and Hematopathology Section also join running a weekly molecular sign-out conference. The molecular diagnostics laboratory also supports many translational researches from NCI and NIH researchers. One of core technologies we developed was cell-free circulating tumor DNA (ctDNA) detection in cancer patients. The laboratory continued to test and evaluate extraction of cell-free DNA from blood on KingFisher Duo Prime and new QIAsymphony instrument, its quantity and quality, and ultrasensitive detection with ddPCR and NGS. The program was to use ctDNA as a biomarker for treatment response and early detection of recurrence. We have initiated some new studies with CCR investigators in diverse cancer subtypes including melanoma, lung, bladder, and pancreatic cancer. We have continued to study rare hematopoietic cancers in collaboration with Dr. Elaine Jaffe and are currently investigating the molecular biology of Histiocytic Sarcoma taking advantage of the samples collected and archived by Dr. Jaffe in her consult practice and have identified novel subgroups of these rare cancers based on gene expression, disease site and mutational status.