2016 Annual Meeting

International Society of Gynecological Pathologists

Room CC Ballroom 6 E, March 13 2016, 1:30pm to 5:00pm


International Society of Gynecological Pathologists

Genetic Susceptibility Syndromes and Gynecological Neoplasia

Sunday, March 13, 2016
1:30 PM 5:00 PM
CC Ballroom 6 E

Moderator: Glenn McCluggage, MD, FRCPath, The Royal Hospitals, Belfast, Ireland

Course Description:
Advances in knowledge about genetic susceptibility disorders have expanded the spectrum of gynecologic malignancies associated with such syndromes. This has led to the generation of altered protocols for the processing and handling of gynecological specimens, and influences what additional studies need be performed to allow appropriate patient management. Pathologists need to be aware of these genetic associations to guide the clinician with respect to the choices and circumstances for genetic testing. Pathologists should have sufficient familiarity with these tests to avoid over-utilization and counsel clinicians on the implications of test results. This symposium aims to update the pathologist on recent advances in inherited and genetic susceptibility disorders affecting the female genital tract. Specifically, it will provide the pathologist with 1) an overview of the genetic susceptibility syndromes that predispose to neoplasms in the female genital tract; 2) update pathologists on the associations of the various genetic syndromes in the female genital tract; 3) advise on the use of immunohistochemistry and molecular (PCR based) testing in the setting of Lynch syndrome; 4) update pathologists on the implications of BRCA mutations with respect to processing and diagnosis of gynecologic neoplasms; and 5) introduce the pathologist to more recently described molecular signatures of mesenchymal, and non-epithelial tumors of the female genital tract and advise on the importance of making these diagnoses. Practical approaches to addressing these issues will be highlighted using a case based format.

Upon completion of this symposium, participants should be better able to:

  1. Describe the associations of the major gynecologic susceptibility disorders in the female genital tract, in particular Lynch and BRCA associated Syndromes.
  2. Describe tumor types and tumor characteristics which if present, should result in reflex implementation of additional testing either by immunohistochemistry or molecular methods to aid recognition of gynecologic susceptibility disorders.
  3. Describe how patients at increased risk for hereditary breast and ovarian cancer (HBOC) can be identified at the time of diagnosis of their tub-ovarian carcinoma and managed appropriately.
  4. Describe the rationale for suspecting a familial cancer syndrome, when dealing with an apparently sporadic gynecologic tumor.
  5. Identify the connections between pathology, molecular genetics and oncology that are becoming increasingly relevant in oncological gynecological pathology practice.
  6. Identify specific clinical scenarios in which PCR-based MLH1 methylation analysis and MSI analysis provides useful data beyond that which immunohistochemistry can provide.
  7. Describe the characteristics of uterine mesenchymal tumors that should raise the possibility of a hereditary syndrome.
  8. Implement a comprehensive and integrated reflex biomarker driven approach to identify Lynch syndrome in patients with gynecologic malignancies.


1:30 PM

Identifying Lynch Syndrome in Patients with Gynecologic Cancers: Arriving Where We Started
Blaise Clark, MD, Toronto General Hospital, Toronto, Ontario, Canada

2:00 PM

Hereditary Ovarian and Breast Cancer Syndrome
C. Blake Gilks, MD, Vancouver General Hospital, Vancouver, BC, Canada

2:30 PM

Pathological and Molecular Features of Cowden and Peutz-Jeghers Syndrome
Xavier Matias-Guiu, MD, PhD, Hospital Universitari Arnau de Vilanova de Lleida, Lleida, Spain


Session 2: Rare Genetic Susceptibility Syndromes and Gynecological Neoplasia

3:30 PM


3:35 PM

Importance of PCR-based Tumor Testing in the Evaluation of Lynch Syndrome
Russell Broaddus, MD, PhD, MD Anderson Cancer, Houston, TX

3:55 PM

Brave New Genomic World: Do We Still Need Clinical Cancer Geneticists, and if so, why?
Will Foulkes, MBBS, PhD, Jewish General Hospital, Montreal, Quebec, Canada

4:15 PM

Uterine Mesenchymal Tumors: Hereditary Aspects
Karuna Garg, MD, University of California, San Francisco, CA

4:35 PM

DICER1 and SMARCA4 Mutations in Ovarian Neoplasia: Recent Developments
Esther Oliva, MD, Harvard Medical School, Massachusetts General Hospital, Boston, MA

4:55 PM

Round Table Q&A


view more