Molecular & Genomic Pathology in the Management of Cancer:

Teaching...Who, When, What and How

Antonia R. Sepulveda MD., PhDColumbia 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

Colon CancerLung Cancer Melanoma

KRAS mtBRAF mtMSIMLH1………

EGFR mtKRAS mtBRAF mtEML4Alk………

BRAF mtKIT mt………

Esophageal-Gastric Breast

Her2 neuIHC / FISH

GISTs

KITPDGFRA

GISTs

KITPDGFRA

BRAF V600E

BRAF V600EA: 30% T: 70%

A T

Colorectal Cancer: MSI-HSporadic? HNPCC/LS?

MLH1 Loss

PMS2 Loss

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:ResidentsFellows:

Molecular Genetic PathologyAnatomic 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!