Angiosarcoma
Angiosarcoma is a rare condition caused by a tumor within the endothelial cells. These cells line the blood vessels in the body, and therefore the tumors can occur practically anywhere. That said, they most frequently develop in the spleen, skin, breast, or liver.
Like all rare diseases, acquiring adequate amounts of data from which to study the cancer can be difficult. Patients live all over the country making data collection challenging.
But a study recently published in Nature Medicine used crowd-sourcing to bring patient data to one centralized location. It was all thanks to the Angiosarcoma Project.
The Angiosarcoma Project
The Count Me In Movement got its inspiration from the Metastatic Breast Cancer Project. Its primary aim is to get rare patients more directly involved in the research process, fostering collaboration between researchers and the individuals living with the disease.
As part of the Count Me In Movement, the Angiosarcoma Project began. It is unique in the fact that individuals from across the country can participate, as enrollment occurs online. This project is still currently enrolling patients from both the United States and Canada. In 1.5 years 340 patients were enrolled. In three years over 500 patients have enrolled.
First initiated in 2017, this project made the below study possible.
The study
One of the researchers on the study, Corrie Painter, was diagnosed with angiosarcoma herself in 2010. She didn’t let this slow her down.
Supported by the Angiosarcoma Project, participating patients provided blood samples, biological tissue samples, medical records, and documentation of their individual lived experiences and needs to the researchers.
They were able to examine genomes for about 50 different angiosarcoma samples taken from patient tumors. These genomes were compared with the patient’s DNA.
The findings
The findings have been novel. In total, 30 different mutations were found in the samples. The type of mutation was found to be dependent on the type of tumor. What is especially noteworthy however, is that some of these mutations have never before been reported as a cause of angiosarcoma. These include GRIN2A, NOTCH2, and PIK3CA.
Understanding more clearly what is causing this disease will allow researchers to investigate more potential treatment options.
Additionally, some of the newly discovered mutations found have qualities which have encouraged researchers to investigate therapies already used in other cancers for the treatment of angiosarcoma.
For example, most of the PIK3CA mutations that were discovered were found in breast tumors. Researchers believe these specific mutations are adding a function to the gene. That means, if they inhibit the mutation from doing so, they could treat this subset of patients effectively. A P13 inhibitor which has already been approved could be effective. Another finding with this subset of mutations is that it is the same family of mutations that cause breast adenocarcinoma. Researchers are now investigating whether or not there is an abnormality within breast cells which increases the probability of tumor development.
Another finding was that in general, more mutations were present in those who had tumors in their scalp, head, face, and neck. Immune checkpoint inhibitors are utilized specifically for cancer tumors which have a high number of mutations. This finding means that researchers have advocated for investigating this therapy for patients who have angiosarcomas in those specific regions. Two patients who tried this approach are now cancer-free despite the fact that they had to stop the treatment due to adverse effects.
3 clinical trials are underway based on the results from this study. By improving collaboration with patients, new therapeutic options for this rare form of cancer could become a reality in the near future.
You can read more about this project and its findings here.
