Rare cancers, including angiosarcoma, account for 25% of adult tumors, but they are still difficult to study due to low disease incidence and diverse patient populations. Rare cancer patients are often treated at institutions distant from one another, making it difficult for large-scale scientific studies to be conducted that would improve our understanding of the biology and allow for the development of better treatments. Therefore patients with rare cancers, such as angiosarcoma are faced with limited treatment options and a frightening future. On top of this challenge, angiosarcoma patients may never meet someone who has the same disease as them making it even more difficult to cope with their illness.

Researchers  at the Broad Institute of MIT and Harvard, Dana-Farber Cancer Institute and the non-profit Count Me In have hypothesized that the challenges of rare cancer research could be overcome by empowering patients to share their samples, their data and experiences.

This patient-partnered research initiative using online engagement to allow patients to remotely participate regardless of geographic location, should hopefully yield more rapid discoveries. Patients in the US and Canada rapidly joined the Angiosarcoma Project (ASCproject)  with 338 patients registering within 18 months. This is significant considering that the annual incidence (number of new patients) of angiosarcoma in the US is 300 cases. Dr. Painter, a lead researcher explained, “The participants in the ASCproject have signed up in the hopes that this will help people down the road”.  She said, “We are grateful that in the midst of their own diagnosis, they wanted to do their part to help prevent the suffering of other patients.”

holding a sign

Jim Chapdelaine, a renowned musician, shared a photo of his Count Me In collection kit with the online group. Image courtesy of Jim Chapdelaine

Although the study is ongoing, the researchers were able to acquire medical records and tumor samples from geographically dispersed patients. A selected 47 samples were sequenced, meaning that the researchers obtained information on the genetic characteristics of the tumors. These experiments provided an insight into common genetic mutations that occur in angiosarcoma tumors that had previously not been reported. Within only 18 months of the Angiosarcoma Project launch, the researchers accrued the largest prospective angiosarcoma cohort to date. This unique research approach has already allowed for more data to be captured that provides a more detailed understanding of the significant genetic changes occuring in angiosarcoma patients.

“Findings like this can really open up the doors in terms of how we think about genes in tissue-specific contexts for cancer tumorigenesis,” said Painter. “We never would have had that insight without this data.”

[Read more about the ASCproject’s new findings.]

The results of the ASC project suggest that patient-partnered projects may offer a powerful approach for studying cancers, especially those that are rare. The ASCproject continues to enroll patients and analyze data, and it has now reached nearly 500 registered patients. Notably, this project is just one of an increasing number of patient-partner projects led by the Count Me In initiative. They have similar projects for metastatic breast cancer, metastatic prostate cancer, esophageal and stomach cancer, osteosarcoma and brain cancer. 

Painter C. et alThe Angiosarcoma Project: enabling genomic and clinical discoveries in a rare cancer through patient-partnered researchNature Medicine. Feb 10, 2020. DOI:10.1038/s41591-019-0749-z.