(P 20) CLEAR CELL SARCOMA: PATIENT REPORTED REAL WORLD EVIDENCE

Objective: Clear Cell Sarcoma (CCS) is an ultra-rare and aggressive soft tissue sarcoma which typically develops in tendons or aponeuroses, and affects mostly teens and young adults. In a majority of cases, CCS is caused by a translocation resulting in the fusion of the genes for activating transcription factor 1 (ATF1) and Ewing sarcoma breakpoint region 1 (EWSR1), resulting in the EWSR1-ATF1 fusion protein. Since CCS is so rare, there is a paucity of research, leading to few treatment options that are generally based on weak scientific evidence. The CCS patient community is eager to Share RWE data as reported by CCS patients and/or their primary caregiver with hopes to initiate further patient data collection and disease natural history research with clinicians, researchers and patients working together. Persons with CCS have been sharing their lived experiences with each other for more than ten years on a private Facebook page and want the sarcoma community to have access to that Real World data through this presentation for the purpose of improving patient outcomes.

Methods: An anonymous electronic survey was created using a basic questionnaire originally designed by the founding members of the CCS Family page along with additional Input from the Clear Cell Sarcoma Foundation (CCSF) medical advisory board. Survey respondents either participate in the CCS family private Facebook group (308 members) or have reached out to the CCSF through the website. The survey was administered via a HIPPA compliant platform called Survey Monkey (now “Momentive”). CCS patients and caregivers were given a dedicated email address to request the survey for participation. All responses are de-identified through the platform.

Results: Forty-two surveys were requested by email. Thirty-seven de-identified surveys were completed at the time of this submission.
Sixty percent of the participants were female. Eighty-three percent of respondents were under the age of 45 at diagnosis. Forty-Seven percent were under age 25 at diagnosis and many of the respondents had the “bump” for years prior to the diagnosis. Fifty-three percent had disease localized to extremities. Twenty-four percent were found to have metastatic disease at diagnosis. Fifty-five percent of patients had a visible lump prior to CCS being diagnosed and 60% had pain in the area of the tumor.
Eighty-four percent of misdiagnosed CCS patients were originally misdiagnosed with either Melanoma or Ewing sarcoma. The correct diagnosis for CCS is often made after the standard of care treatment for the wrong disease is given. This has a negative effect on the patient. Twenty-four percent of respondents found errors in their medical records.
Ninety-seven percent of clear cell sarcoma patients surveyed want to be involved in research and are willing to give their time and share information with researchers and clinicians who want to help find better diagnostic tests and treatments for CCS.

Conclusion: Many research projects put a high value on gathering medical data directly from patient’s charts or the treating institutions’ in an effort to minimize patient reported inaccuracies. Twenty-four percent of CCS patients report they are misdiagnosed or intentionally diagnosed with something other than CCS in a well-meaning effort to ensure insurance will allow the treatment prescribed by the treating physician. The CCSF recommends patients and researchers collaborate on projects where CCS patient data is gathered to ensure accurate information is being used. This includes retrospective data.

Blood work is a relatively quick and easy way for the general health of CCS patients to be monitored and for researchers to develop diagnostic assays to monitor disease and treatment response.

A majority of CCS patients had a lump and even more had pain in the area of the tumor before diagnosis. Sarcomas are generally thought of as not producing pain which can lead to misdiagnosis as a sprain or injury, thus prolonging proper treatment.

Nearly all of the patients queried responded positively about being involved in medical research related to their CCS diagnosis. The CCSF encourages collaboration and open discussions with the CCS family of patients. Please reach out by sending an email to info@clearcellsarcoma.org to set up a focus group or discuss how we can help each other.