Panel Presentation: Longitudinal Mutational Landscape and Transcriptomic Analysis of Aggressive Uterine Leiomyosarcoma in a Patient with Exceptional Survival

Uterine leiomyosarcoma (uLMS) is a rare aggressive sarcoma of the smooth muscle layer of the uterus manifested in high local recurrence and metastatic rate. Currently, effective treatment of patients with uLMS remains challenging due to our limited understanding of the molecular mechanisms driving uLMS. In this webinar, we present a unique case study of a treatment-naïve patient with aggressive metastatic uLMS with multiple pulmonary metastases who has experienced long-term survival for >7 years without therapy except surgery. Using whole exome sequencing (WES), we analyzed 5 tumors (1 primary and 4 lung metastasis) for shared and unique mutational and transcriptional expression signatures to explore and identify mechanisms of uLMS tumor growth and metastasis in this patient.

Learning Objectives:   

1. Identify which mutations and pathways were identified as potential regulators of tumor growth in the patient.   

2. Review how a combination of variant analysis and transcriptomic analysis enabled the identification of potential drivers of metastatic processes and which bioinformatics tools were used.

3. Vizualize what mechanisms and targeted therapy strategies we proposed for this uLMS patient and how these recommendations are applicable to other sarcomas with specific genomic alterations.