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Latest Advances in Molecular Pathology

Monday, August 19 | 9:00 am – 12:00 pm

College of American Pathologists

This course is designed to educate practicing pathologists on the current molecular diagnostics technologies. This three part course is produced in collaboration between Cambridge Healthtech Institute and the College of American Pathologists.

Scientific Advisor:

Nazneen AzizNazneen Aziz, Ph.D., Director of Molecular Medicine in the College of American Pathologists


Introduction to Molecular Pathology Methods

Jack LichyJack H. Lichy, M.D., Ph.D., Chief, Pathology & Laboratory Medicine, VA Medical Center, Washington, D.C.

The presentation will provide an overview of the tools of molecular biology that have been applied to diagnostic pathology. Methods will be presented in a manner that follows the historical development of the field of Molecular Pathology, from early applications of the Southern blot to lymphoma diagnosis, through the development of DNA amplification and sequencing methodologies, high density arrays, and the new technologies for high throughput DNA sequencing. The following methods will be discussed in the context of their relevance to diagnostic pathology:

  • Principles of DNA hybridization
  • The Southern blot
  • Polymerase Chain Reaction (PCR) and its variants
  • DNA Sequencing
  • The promise of Next Generation Sequencing


Molecular Diagnostic Cancer Testing

Christopher GockeChristopher D. Gocke, M.D., Associate Professor of Pathology and Oncology, Director of Hematology, Molecular Diagnostics, Johns Hopkins University School of Medicine

This presentation will illustrate molecular diagnostic principles and their application to cancer testing. Diagnostic, prognostic and predictive tests will be discussed, with particular emphasis on Next Generation Sequencing approaches.

  • Chronic myelogenous leukemia - BCR-ABL monitoring and mutation testing
  • Lung cancer - EGFR and KRAS mutation testing to predict responsiveness to EGFR inhibitors
  • Colorectal cancer - BRAF/ KRAS mutation testing for resistance to anti-EGFR antibodies
  • Melanoma - BRAF and KIT testing to target kinase inhibitor therapy
  • Cancer genome profiling by next generation sequencing

Cytogenetic Testing and Microarray Comparative Genomic Hybridization 

Jennifer J.D. Morrissette, Ph.D., Adjunct Professor, Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine; Clinical Director, Center for Personalized Diagnostics, Hospital of the University of Pennsylvania 


  • Chromosomal analysis: Indications for use and methodology
  • FISH: Indications for use and methodology, including probe design strategies
  • FISH for use in pathological diagnosis and treatment
  • CMA: Methodology and clinical utility

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