APR 13, 2017 6:00 AM PDT

The Pandora's box of molecular diagnostics: Genomic analysis of uterine lavage fluid detects early endometrial cancers

Speaker
  • Icahn School of Medicine at Mount Sinai Departments of Genetics and Genomic Sciences, Pediatrics, Obstetrics/Gynecology & Reproductive Sciences and Oncological Sciences
    Biography
      John A. Martignetti, MD, PhD, an expert in human genetics and genomic sciences at the Icahn School of Medicine at Mount Sinai, as the Network Director of the Laboratory for Translational Research at the WCHN Biomedical Research Institute. Under this collaboration, Dr. Martignetti's well-established bedside to bench cancer research methodology will be extended to patients at Danbury, Norwalk and New Milford hospitals leading to more personalized and successful therapeutic strategies. He will work closely with the oncology physicians and research scientists across WCHN to build on their nationally recognized efforts.

    Abstract

    Endometrial cancer is the most common gynecologic malignancy in the United States and both the incidence and associated mortality are rising. When detected early, endometrial cancer survival rates are dramatically improved. Despite this, no screening methods have been developed which can effectively detect either pre-malignant lesions or early-stage cancers. We conducted a prospective study to analyze the effectiveness of molecular analysis of uterine lavage fluid, taken at the time of evaluation for a definitive tissue-based diagnosis, to assess the use of targeted next generation sequencing (NGS) for detecting endometrial carcinomas. The women in this study were primarily either experiencing abnormal uterine bleeding or had abnormal pelvic ultrasound findings and were being evaluated by hysteroscopy and curettage for a tissue diagnosis. We detected somatic mutations in all women who were later diagnosed with endometrial cancer, even microscopic stage IA, grade 1. In addition, we also identified that half of the women in our study who did not have clinical evidence of cancer, nonetheless possessed a significant landscape of driver mutations. Our findings therefore suggest the apparently inimicable possibilities of a genomics- based approach for endometrial cancer screening and the discovery of prevalent driver mutations in clinically-defined non-cancerous tissue.


    Show Resources
    You May Also Like
    AUG 25, 2020 8:00 AM PDT
    C.E. CREDITS
    AUG 25, 2020 8:00 AM PDT
    DATE: August 25, 2020 TIME: 8:00am PDT, 10:00am CDT, 11:00am EDT Recombinant lentivirus (LV) and adeno-associated virus (AAV) are critical components of cell and gene therapies, which show g...
    OCT 29, 2020 6:00 AM PDT
    C.E. CREDITS
    OCT 29, 2020 6:00 AM PDT
    Date: October 29, 2020 Time: 6:00am (PDT), 9:00am (EDT), Chronic inflammation can occur as a result of a combination of genetic predispositions and environmental factors. Epigenetic modifica...
    JUL 22, 2020 10:00 AM PDT
    C.E. CREDITS
    JUL 22, 2020 10:00 AM PDT
    DATE: July 23, 2020 TIME: 10:00 am PDT The SARS-CoV-2 pandemic has taken a toll on many sectors of the medical community. As the pandemic took a grip on the laboratory, the need for diagnost...
    DEC 09, 2020 9:00 AM PST
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    C.E. CREDITS
    DEC 09, 2020 9:00 AM PST
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    DATE: December 09, 2020 TIME: 09:00am PDT Hematopoietic stem cells (HSCs) ensure homeostasis of blood throughout life. In this webinar, we share insights into the smart and easy isolation, c...
    NOV 18, 2020 8:00 AM PST
    C.E. CREDITS
    NOV 18, 2020 8:00 AM PST
    DATE: November 18, 2020 TIME: 08:00am PDT We develop and implement technologies to solve some of the major bottlenecks in biomedical research. In particular, we establish new imaging approac...
    DEC 15, 2020 10:00 AM PST
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    C.E. CREDITS
    DEC 15, 2020 10:00 AM PST
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    DATE: December 15, 2020 TIME: 10:00am PST Scientists from Thermo Fisher Scientific will walk us through the world of microorganisms. They will discuss their most recent research on viruses,...
    Loading Comments...
    Show Resources
    Attendees
    • See more