Course Description
It is becoming more and more important to go beyond morphology in the pathologic assessment of tumors, with incorporation of molecular testing into our diagnostic algorithms. While much of this testing may be performed in molecular pathology laboratories, surgical pathologists need to be comfortable with their understanding of the technology associated with these tests in order to select adjunctive tests, incorporate molecular results into their interpretive reports, and to lead clinicopathologic correlation. Molecular pathology is a rapidly evolving specialty, with novel technologies and new complex testing being introduced all the time. However, basic technologies, including polymerase chain reaction, in situ hybridization, sequencing, and others, underpin most molecular anatomic pathology tests today. This course will provide an overview to these fundamental molecular technologies at an introductory level. The faculty will use both didactic lectures and case presentations to illustrate the techniques, discuss the interpretation of the results, and highlight some of the pitfalls of the molecular testing. A selection of standard technology, specialized techniques, and emerging assays will be introduced. The course is designed specifically for the practicing pathologist or trainee who wants to gain comfort with currently available molecular anatomic pathology techniques and result interpretation.

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

• Identify diagnostic surgical pathology cases that might benefit from additional molecular testing.
  
  
• Select the optimal technology, based on the type of tissue samples available.
  
  
• Interpret some common molecular test results.
  
  
• Recognize potential pitfalls in molecular testing for commonly applied tests.
  
  
• Illustrate the basic techniques that underpin commonly available molecular anatomic pathology assays.
  
  
• Outline specialized techniques and potential emerging technologies for molecular anatomic pathology testing.

Introduction to Basic Molecular Pathology Techniques: Fixation, Microdissection, and Polymerase Chain Reaction-based Assays Jennifer L. Hunt, M.D., M.Ed., University of Arkansas for Medical Sciences, Little Rock, AR Upon completion of this presentation, participants should be able to: Recognize the effects of fixation on nucleic acids and be able to select assays that are appropriate to the tissue material available. Describe the phases of a standard polymerase chain reaction.

Loss of Heterozygosity and Microsatellite Instability in Tumors: Mechanisms, Testing, and Clinical Implications Wade Samowitz, M.D., University of Utah Health Sciences Center, Salt Lake City, UT Upon completion of this presentation, participants should be able to: Define and explain the biologic mechanism behind loss of heterozygosity and microsatellite instability. Describe the clinical utility and methods of testing for these molecular alterations.

Applications of Tissue Genotyping in the Routine Practice of Surgical Pathology Pei Hui, M.D., Ph.D., Yale University School of Medicine, New Haven, CT Upon completion of this presentation, participants should be able to: Comprehend the basic technical aspects of short tandem repeat (STR) genotyping analysis using conventional tissue specimens. Describe clinical diagnostic applications of STR genotyping for in surgical pathology.

Copy Number Detection by Chromosomal Microarray Analysis Long Phi Le, M.D., Ph.D., Massachusetts General Hospital, Boston, MA Upon completion of this presentation, participants should be able to: Describe the role of copy number variation in genetics and disease. Characterize the methodology, utility and limitation of chromosomal microarray analysis.

Introduction to In Situ Hybridization Technology, Interpretation, and Pitfalls Long Phi Le, M.D., Ph.D., Massachusetts General Hospital, Boston, MA Upon completion of this presentation, participants should be able to: Select the appropriate approach for translocation testing in clinical testing. Describe the pitfalls in interpretation and scoring of FISH based testing.

HPV Detection: Testing Methodologies and Their Clinical Utility Jennifer Laudadio, M.D., Wake Forest University Baptist Medical Center, Winston-Salem, NC Upon completion of this presentation, participants should be able to: Explain the role of Human Papillomavirus in oncogenesis. Describe the clinical indications, appropriate sample types and available methods for HPV detection.

Principles and Applications of Real-Time Quantitative PCR Janina Longtine, M.D., Brigham and Women’s Hospital and Harvard Medical School, Boston, MA Upon completion of this presentation, participants should be able to: Explain the basic chemistry of real-time quantitative PCR and distinguish it from end-point PCR. Illustrate a clinical application of real-time quantitative PCR.

Sequencing to Detect Oncogene Mutations in Clinical Anatomic Pathology Applications Jennifer L. Hunt, M.D., M.Ed., University of Arkansas for Medical Sciences, Little Rock, AR Upon completion of this presentation, participants should be able to: Identify the best approach for detecting oncogene mutations in tumor samples. Recognize the pitfalls in common approaches for oncogene detection technology.

Questions and Answer