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SC36 Part 1 - Inherited Gynecologic Cancer Syndromes - Pathologically and Clinically Based Risk Assessment and Genetic Counseling: What every practicing pathologist should know

Teri Longacre, M.D., Stanford University, Stanford, CA; Angela G. Arnold, M.S. and Robert Soslow, M.D., Memorial Sloan Kettering Cancer Center, New York, NY

This course will provide registrants an overview of inherited gynecologic cancer syndromes with emphasis on BRCA-associated and Lynch syndromes. Specific topics include: biological and clinical underpinnings of BRCA1 and BRCA2 dysfunction and PARP function; current models of serous carcinogenesis; how to assess for hereditary ovarian cancer risk- importance of genetic counseling and the use of pathology and family history as risk assessment tools; ovarian cancer risk reduction strategies, including chemoprevention, surveillance and risk reducing surgery; proper grossing techniques for risk reducing (i.e. prophylactic) salpingo-oophorectomy specimens; criteria for the diagnosis of intraepithelial serous carcinoma of the fallopian tube and the distinction of this lesion from mimics; strategies for diagnosing both grossly visibly and clinically inapparent lesions in salpingo-oophorectomy specimens; current concepts of the morphologic phenotype of BRCA1 associated ovarian, tubal and peritoneal carcinoma; biological and clinical attributes of BRCA1 inactivated ovarian, tubal and peritoneal carcinoma, including an introduction to the rationale for targeted therapy; biological and clinical underpinnings of Lynch syndrome in endometrial and ovarian cancer; rationale behind assessment for hereditary cancer risk in patients with endometrial cancer; risk assessment for Lynch Syndrome genetic counseling, family history and pathology; techniques used to determine Lynch syndrome risk in patients with endometrial cancer, including morphologic, immunohistochemical and molecular diagnostic examination; algorithms used to determine Lynch syndrome risk; ethical and regulatory issues concerning screening patients for cancer predisposition syndromes. The genetic basis, clinical presentation and morphologic features of tumors associated with other, less common gynecologic cancer syndromes will also be covered: Peutz Jeghers; Cowden; Hereditary leiomyomatosis/renal cell carcinoma; Tuberous sclerosis; Ataxia telangiectasia. The course will be presented by two gynecologic pathologists and a genetic counselor who will deliver approximately 2 hrs worth of lectures and a slide seminar lasting approximately one hour. The target audience is general pathologists, gynecological pathologists, residents and fellows. Virtual slides or digital images and a detailed handout will be provided online prior to the meeting.

Upon completion of this educational activity, participants should be able to:

  1. Recognize key histologic features in inherited gynecologic malignancies
  2. Provide and discuss advantages and disadvantages of suggested laboratory tests and testing algorithms for inherited gynecologic malignancies,
  3. Understand the role of the pathologist in the implementation and evaluation of screening modalities and risk reducing procedures for these patients.

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