2013 Archived Content

SC7 Latest Advances In Molecular Pathology 

Monday, February 20 | 1:00 pm – 4:00 pm

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


1:00 Introduction and Opening Remarks

1:05 Introduction to Molecular Pathology Methods

Iris Schrijver, M.D., FCAP, Associate Professor of Pathology and Pediatrics, Director, Molecular Pathology Laboratory, Stanford University Medical Center, Lucile Packard Children's Hospital

The presentation is focused on the basic principles of genetics and genetic testing, as directly applicable to molecular genetic pathology practice. Examples of molecular testing methods will be covered in an interactive way and placed in the context of disease examples. Advantages and limitations will be explained for each method.

1:55 Molecular Diagnostic Cancer Testing

Michael H. A. Roehrl, M.D., Ph.D.
Assistant Professor of Pathology and Laboratory Medicine, Boston Medical Center Scientific Director, BioBank at Boston Medical Center Medical Director, Laboratory Outreach Operations

The understanding of molecular aberrations in malignancies continues to revolutionize diagnosis and treatment of these diseases. This introductory lecture will focus on a variety of genomic, transcriptomic, and protein-based tests and their use in selected human cancers.

Topics to be discussed:

• Colon cancer (EGFR, k-Ras)
• Lung cancer (EGFR, ALK)
• Melanoma (c-Kit, B-Raf)
• Head and neck cancers (HPV)
• Sarcomas (karyotyping, rearrangements)
• B-Raf-omas (example of unifying mutations in traditionally distict entities)
• Outlook: Cancer genome profiling (exome sequencing, whole genome sequencing)

2:45 Refreshment Break

3:10 Cytogenetic Testing and Microarray Comparative Genomic Hybridization

Athena Cherry, Ph.D., Director, Cytogenetics Laboratory, Professor, Pathology and Pediatrics, Stanford Comprehensive Cancer Center

Cytogenetic testing includes chromosomal analysis, fluorescence in situ hybridization (or FISH) and array comparative genomic hybridization (or aCGH).   Chromosomal analysis and FISH are routinely used in a wide variety of clinical/diagnostic situations.  Currently, aCGH is routinely used as a first line test in children with multiple congenital anomalies.  The clinical utility of aCGH in the diagnosis/prognosis and treatment strategies in leukemias, lymphomas and other malignancies is being investigated.

Topics to be discussed:

• Methodology and use of chromosomal analysis
• FISH methods, probe strategies and FISH panels
• FISH for use in pathological diagnosis and treatment
• aCGH methods and use

4:00 Close of Course

Also review companion course: SC15 Latest Advances in Molecular Pathology, Part II (Advanced) 

Recommended Symposia: Next-Generation Pathlogy  

Recommended Core Programs: Cancer Molecular Markers, Oncology Clinical Trials   


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