Course Description
Accumulating discoveries of the biological mechanisms that control cell growth and differentiation, and developments in the clinical management of cancer, continue to expand the role of molecular technology in diagnostic surgical pathology. In this course, the fundamental principles of molecular pathology in cancer and their application to laboratory medicine will be emphasized in a format designed to be practical and straightforward. Specifically, this course is aimed at providing pathologists with a foundation in the practice of oncologic molecular pathology to include: nomenclature, commonly used techniques and their specimen requirements, assay selection and indications, diagnostic and prognostic utility, test turn-around-times, and quality assurance issues. Select cases may be presented to illustrate use in routine practice and serve as useful paradigms. Moreover, specific areas will be highlighted in which major advances can be expected and to which the key principles learned can be applied.

Course Objectives: Upon completion of this course, participants should be able to:

• Summarize the central genetic principles of oncologic molecular tests commonly used in the practice of pathology.
  
  
• Identify tests available in oncologic molecular pathology as well as their application and interpretation in screening, diagnosis, monitoring, and treatment of cancer.

Introduction Julia A. Bridge, M.D., FACMG, University of Nebraska Medical Center, Omaha, NE

Clinical Cytogenetic and Molecular Genetic Testing in Bone and Soft Tissue Tumors Julia A. Bridge, M.D., FACMG, University of Nebraska Medical Center, Omaha, NE Upon completion of this presentation, the participant should be able to: Review sample requirements and handling for RT-PCF, FISH, and cytogenetic analysis as they pertain to evaluating mesenchymal neoplasms. Describe the advantages and limitations of genetic approaches commonly used in the classification of mesenchymal neoplasms to include conventional karyotyping, FISH and RT-PCR. Recognize the diagnostic, prognostic, and therapeutic value of molecular markers in mesenchymal neoplasia.

Molecular Testing in the Management of Patients with Breast Cancer: Current Status and Future Directions Stuart Schnitt, M.D., Beth Israel Deaconess Medical Center, Boston, MA Upon completion of this presentation, the participant should be able to: Explain the molecular classification of breast cancer and its clinical implications. Review the uses and limitations of currently available molecular prognostic tests for patients with breast cancer. Describe the emerging role of genome sequencing in the management of patients with breast cancer.

Molecular Markers for Targeted Lung Cancer Therapy John Iafrate, M.D., Ph.D., Massachusetts General Hospital, Boston, MA Upon completion of this presentation, the participant should be able to: State the current genetic landscape of lung tumors. Identify the role of genetic testing in guiding targeted therapies in lung cancer. Appreciate the importance of advanced technologies in the future of pathologic assessment of tumors.

Clinical Applications of Recent Molecular Advances in Urologic Malignancies: No Longer Chasing a "Mirage" George J. Netto, M.D., Johns Hopkins University, Baltimore, MD Upon completion of this presentation, the participant should be able to: Review salient “translationally” pertinent advances in our understanding of the molecular pathogenesis of Selected Urologic Malignancies. Recognize Upcoming Novel Diagnostic and Prognostic markers and potential targets of Therapy in Selected Urologic Malignancies.

Molecular Diagnostics of Lymphoma: Assays for Classification, Outcome Prediction and Therapy Response Dan Jones, M.D., Ph.D., Quest Diagnostics Nichols Institute, Chantilly, VA Upon completion of this presentation, the participant should be able to: Select the appropriate and most cost-effective molecular and cytogenetic testing for workup of lymphomas and tissue-based leukemic infiltrates of various types. Assess the technology, limitations and benefits of next generation mutation, array and transcriptional profiling in lymphomas.

GIST and Melanoma: The KIT Connection and So Much More Alexander Lazar, M.D., Ph.D., University of Texas M. D. Anderson Cancer Center, Houston, TX Upon completion of this presentation, the participant should be able to: Illustrate the techniques and results of molecular testing for gastrointestinal stromal tumor (GIST) and melanoma. Recognize the association between histologic and molecular features in GIST and melanoma. Interpret the emerging role of molecular diagnostics in patient management for GIST and melanoma.

Colorectal Cancer: Molecular Testing for the Surgical Pathologist Kevin C. Halling, M.D., Ph.D., Mayo Clinic, Rochester, MN Upon completion of this presentation, the participant should be able to: Discuss how MSI and DNA mismatch repair IHC testing and germline DNA mismatch repair gene sequencing are used to identify, diagnose, and manage patients with HNPCC. Explain how microsatellite instability testing can be used to assess stage II and III CRC patients’ prognosis and response to 5FU treatment. Describe how KRAS and BRAF testing can be used to predict response to anti-EGFR therapies for patients with metastatic colorectal cancer (CRC).

Molecular Diagnostics of Thyroid Cancer Yuri E. Nikiforov, M.D., Ph.D., University of Pittsburgh, UPMC Presbyterian, Pittsburgh, PA Upon completion of this presentation, the participant should be able to: Prepare a summary of the most common molecular alterations in thyroid tumors and their histopathologic correlations. Discuss specimen requirements and techniques for molecular testing of thyroid surgical resections and fine needle aspiration (FNA) samples. Describe the diagnostic and prognostic application of specific molecular markers in thyroid cancer

Question Period and Concluding Remarks