Posted July 27, 2022

Sarcoma is a type of rare cancer arising from connective tissue, such as bone, muscle, nerve, and fat, and there are over 80 different subtypes based on the tissue of origin.¹ Collectively, sarcomas represent 1 percent of all adult cancers but are more common in children, representing about 20 percent of all childhood cancers.² Sarcoma Awareness Month is observed annually in July, but the Rare Cancers Research Program (RCRP) is dedicated to funding research to advance our understanding of sarcoma biology and explore new treatment options all year long. The RCRP was established by Congress in the Fiscal Year 2020 (FY20) with an appropriation of $7.5 million, and in its inaugural year, five awards were funded focused on sarcomas. In FY21, the RCRP received $17.5 million, and invested in seven projects focused on sarcoma research. The investment strategies of RCRP includes funding highly innovative and impactful basic and translational research studies. The investment strategy also includes development of a new mechanism Resource and Community Development Award (RCDA) to support the creation of resources and platforms that can build tools and networks for rare cancers research, as well as, facilitate collaboration and information sharing within the rare cancers community, which includes scientists, clinicians, patient advocates.

Partnering with Patients to Create a Functional Genetics Platform for Rare Soft Tissue Sarcoma

Dr. Jesse Boehm at the Massachusetts Institute of Technology received a RCDA in FY20 to use a direct-to-patient platform for living tissue donation in rare soft tissue sarcomas. This platform enables patients to contribute tumor tissue or other samples directly for research. Dr. Boehm is partnering with the Rare Cancer Research Foundation, the Desmoid Tumor Research Foundation, the Clear Cell Sarcoma Foundation^TM, the National Leiomyosarcoma Foundation and the Epithelioid Hemangioendothelioma Foundation to engage sarcoma patients and families. Samples, received from donations, will be used to generate cell line models and complete genomic characterization to understand molecular differences between patients and across different sarcoma subtypes. The developed models will be made publically accessible through a partnership with the American Type Culture Collection (ATCC) �, a nonprofit organization that collects, stores, and distributes cell lines and materials for international research and development efforts. Finally, Dr. Boehm and his team will complete high throughput genomic screening for the identification of potential therapeutic targets using Cas12 dependency screens.

A Pilot Project: “Onsite” Autopsy Program for Postmortem Tissue Donation

Dr. Patricio Gargollo at the Mayo Clinic received a FY21 Concept Award to develop a regional autopsy program for postmortem tissue donation (PMTD) in soft tissue sarcoma (STS). This program will allow patients and caregiver to consent to post-mortem tumor tissue donation before death to accelerate research in these rare tumors. The team will establish protocols to allow for the donation of samples within a 200-mile radius of the Mayo Clinic. Samples will be characterized to determine genetic mutations and a tissue biorepository will be established. This project will serve as a model for the feasibility of a regional post-mortem tissue collection program in soft tissue sarcoma. When this is successful it can serve as a template for a national, multiinstitution PMTD program in rare tumors potentially vastly expand publicly accessible data on hundreds if not thousands of STS tissue specimens. Eventually, obtained data may then be utilized to characterize and identify possible therapeutic targets that have not been evident to date.

Additional Sarcoma Research Awards

During past two years, RCRP funded a variety of studies addressing different aspects of sarcoma research. This includes studies:

• Focused on understanding the biology and etiology of CIC-DUX4 Fusion sarcoma.
• Identifying novel therapies for retroperitoneal liposarcomas.
• Developing a mouse model for epithelioid hemangioendothelioma.
• Investigating the biology of immune evasion in sarcoma.
• Focused on identifying novel therapies for rhabdomyosarcoma.
• Developing a cell therapy for the treatment of uterine sarcomas.

The RCRP is focused on sharing the successes of these awards in the future and continuing to support research on the prevention, detection, diagnosis, and treatment of sarcomas and other rare cancers.

References:
¹https://www.cancer.columbia.edu/cancer-types-care/types/sarcoma/about-sarcoma
²Burningham, Z., Hashibe, M., Spector, L. et al. The Epidemiology of Sarcoma. Clin Sarcoma Res 2, 14 (2012). https://doi.org/10.1186/2045-3329-2-14

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