QCI I Translational

Understanding survivability in rare metastatic cancer using WES

September 01, 2021
This webinar will discuss a unique study that used whole-exome sequencing to understand exceptional survival in a patient with a very rare metastatic cancer, uterine leiomyosarcoma (uLMS), an aggressive sarcoma of the smooth muscle layer of the uterus manifested in high local recurrence and metastatic rate.

In this webinar, Tatiana Omelchenko, Deep Pandya, and Jean-Noël Billaud will present a case study of a treatment-naive patient with aggressive metastatic uLMS and multiple pulmonary metastases who has experienced long-term survival for more than seven years without therapy except for surgery. The speakers analyzed five tumors — one primary and four lung metastases — for shared and unique mutational and transcriptional expression signatures to explore and identify mechanisms of uLMS tumor growth and metastasis in this patient.

Attendees of this webinar will learn:

Which mutations and pathways were identified as potential regulators of tumor growth in the patient
How a combination of variant analysis and transcriptomic analysis enabled the identification of potential drivers of metastatic processes and which bioinformatics tools were used
What mechanisms and targeted therapy strategies the speakers proposed for this uLMS patient and how these recommendations apply to other sarcomas with specific genomic alterations

Tatiana Omelchenko, Ph.D.
Research Specialist, Rockefeller University

Deep Pandya
Research Associate, Danbury Hospital, Nuvance Health

Jean-Noël Billaud, Ph.D.
Senior Principal Scientist, Qiagen Digital Insights

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