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Molecular & Genomic Pathology in the
Management of Cancer:
Teaching...Who, When, What and How
Antonia R. Sepulveda MD., PhD
Columbia University, NY, NY
Notice of Faculty Disclosure
In accordance with ACCME guidelines, any individual in a position to influence
and/or control the content of this ASCP CME activity has disclosed all relevant
financial relationships within the past 12 months with commercial interests that
provide products and/or services related to the content of this CME activity.
The individual below has responded that he/she has no relevant financial
relationship(s) with commercial interest(s) to disclose:
Antonia R. Sepulveda MD., PhD.
HeItadline
Molecular mechanisms underlying cell function - Physiology - Pathology
Colorectal Cancer Molecular
Mechanisms & Pathways
Molecular Testing: It
Used to be “Simple”
• One order – One test
– One result
– One interpretation
– One clinical application
Molecular Pathology: Solid Tumors
Personalized Diagnostics for Targeted Therapies
Lung Cancer
EGFR mt
KRAS mt
BRAF mt
EML4Alk
………
Colon Cancer
Melanoma
KRAS mt
BRAF mt
MSI
MLH1
………
BRAF mt
KIT mt
………
Esophageal-Gastric
Breast
GISTs
Her2 neu
IHC / FISH
KIT
PDGFRA
MLH1 Loss
Colorectal Cancer: MSI-H
Sporadic? HNPCC/LS?
A:
30%
T:
70%
BRAF V600E
A
PMS2 Loss
T
BRAF V600E
Then came
Gene Panels and
Exome and
Genome…
Molecular Genomic Pathology
Heat Map: NGS-Tumors
Courtesy of Helen Fernandes PhD
What is the role of
Pathologists and
Pathologists in Training
in the Genomic Era?
Molecular Rotation: Residents
•
•
•
•
•
•
Molecular Pathology (4 weeks)
Cytogenetics - tumor (4 weeks)
Cytogenetics - constitutional (2-4 weeks)
Immunogenetics (2 weeks)
Lectures
Journal Club
Molecular Genetic Pathology Fellowship
• Knowledge of the principles of Molecular
Genetic Pathology:
– Basic molecular biology, genetics, testing
methodologies, laboratory management
• Clinical application in:
– Inherited disorders, oncology and gene targeted
therapies, infectious disease, hematology,
immunogenetics and pharmacogenetics
Molecular & Genomic Pathology in the
Management of Cancer:
Teaching...Who?
Trainees:
Residents
Fellows:
Molecular Genetic Pathology
Anatomic Pathology Subspecialties
Practicing Pathologists
Molecular & Genomic Pathology in the
Management of Cancer:
Teaching… When and How?
-Lectures:
General: technical considerations
Integrated in subspecialty Anatomic Pathology
-Journal Club
-Tumor Boards and Multidisciplinary subspecialty
conferences
-CME conferences
Molecular & Genomic Pathology in the
Management of Cancer:
Teaching… When and How?
Practice, Practice, Practice
-Rotations through dedicated service (PGM)
-Integration in Surgical and Cytopathology reports
-Molecular Oncology Case review conferences
Molecular & Genomic Pathology in the
Management of Cancer:
Teaching...What?
- Molecular mechanisms of disease
-Technical approaches
-Result interpretation
-Correlation with surgical/cytopathology diagnosis
-Integration with clinical setting
-Indications for targeted therapy
-Indications as predictors of disease
development or recurrence
Molecular & Genomic Pathology in the
Management of Cancer:
Teaching...What?
Identifying a Curriculum
-Local Institution
-Societies:
AMP Training & Education Committee
Curriculum development task forces:
• Molecular Pathology Residency Training
• MGP Fellow Training and Curriculum in
Genomics
Molecular & Genomic Pathology in the
Management of Cancer: Sailing ahead!