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Researcher Corrie Painter, who was herself diagnosed with angiosarcoma back in 2010, says, “When we saw the data for the first time, we were excited to see these discoveries were evident from the genomic data from the very beginning. Working with patients to design and build the project from the start has been a phenomenal experience.” The findings
There were 30 mutations that were repeated in the samples, depending on the type of tumor. And several, such as PIK3CA, GRIN2A, and NOTCH2, are being reported in angiosarcoma for the first time.
Some of the gene defects suggested a possible role for drugs already being used in other types of cancer. The majority of the PIK3CA mutations were in breast angiosarcomas. These mutations were thought to be activating mutations, that is, they add a function to the gene or enhance an existing function. If so, drugs that inhibit this pathway, such as the already approved P13 inhibitor, can help treat this subgroup of patients who have breast angiosarcomas, with PIK3CA mutations.
Moreover, this family of gene mutations also occurs in breast adenocarcinoma, which is a different type of cancer. This could indicate that an abnormality in the breast cells enhances the chances of tumor development. This line of investigation is due directly to the finding of the mutations in a common gene in two different types of cancer in the same tissue.
Another interesting finding was that the overall mutation frequency was higher in angiosarcomas of the head, neck, face and scalp. These mutations are similar to those caused by ultraviolet radiation and have led to the suggestion that these tumors may have arisen because of solar damage.
Immune checkpoint inhibitors are a type of cancer drug that can be used in tumors with a high mutation burden. The researchers therefore think they should investigate the utility of these medicines in patients with angiosarcomas of the head, neck, face and scalp.
Interestingly, they found that 2 patients with tumors in these areas were put on these medications after conventional chemotherapy failed to control their disease. Both eventually had to stop the treatment because of intolerable adverse effects. However, both are cancer-free today despite not having had any more therapy for their tumors. This certainly is food for thought. Achievements and future goals
The researchers now need to look for much more solid evidence as to the effectiveness of these drugs but there is more than a glimmer of hope now. Even now, three clinical trials now ongoing have taken in angiosarcoma patients for evaluation of these non-standard treatments, based on unpublished data from this study.
As for the Angiosarcoma Project, enrolment is still on, with 500 patients having enrolled within less than 3 years. Data analysis is still proceeding. The number of patients registered astonishes Painter, who says, “It was an aspirational goal that I honestly didn't know if we would ever reach, let alone achieve in two and a half years.”
Yet, despite the hope offered by these new discoveries, there is also the pain as new and old friends with the disease fall prey to its deadly tentacles over time. Painter pays tribute to these unsung contributors: “The participants in the ASC project have signed up in the hopes that this will help people down the road. 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.” Journal reference:
Painter CA, Jain E, Tomson B, et al. The Angiosarcoma Project: enabling genomic and clinical discoveries in a rare cancer through patient-partnered research. Nature Medicine. DOI: 10.1038/s41591-019-0749-z
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