Posted by on Feb 17, 2020 in Blog | 0 comments

It’s taken five years but the wait has been worth it with results from one of the “Count Me In” Projects showing breakthrough results. Here’s the story.

Remember Corrie Painter?

In July 2015, Medivizor introduced our readers to Corrie Painter, her work with angiosarcoma and with the Broad Institute. Being a patient herself, Corrie has championed the knowledge, information and understanding that patients can bring to research. With patient advocacy organizations, as well as patient input, her team designed a website to obtain data from patients and caregivers. As of October 2018, her first project, the Metastatic Breast Cancer Project (MBC Project), has collected data from over 1300 surveys from metastatic breast cancer patients, 237 metastatic breast cancer samples have gone through whole-exome sequencing. And the effort to learn more to identify treatments for MBC continues.

Rare Cancers

Because so little is known about angiosarcoma, when Corrie was diagnosed with angiosarcoma of the breast in 2010, she thought she had 6 months at most. Thankfully, she has gone through treatment and has been NED since then. In the meantime, besides the MBC Project, she started an awareness community with a fellow angiosarcoma patient and began another “Count Me In” Project for angiosarcoma.

With rare diseases and rare cancers, the challenge for research is finding the patients. That’s why the novel approach to research on rare cancers broached by Corrie and the Broad Institute has been so powerful.  This week, Corrie and her team published their first results from the Angiosarcoma “Count Me In” Project in a detailed letter to Nature Medicine. Over 300 patients treated in a range of settings, from rural community hospitals to academic medical centers across the US and Canada, have joined the project in the first 18 months that the website and project has been set up.

With the rarity of the cancer, this is the largest accumulation of data on angiosarcoma in the literature. Medical records, samples of tumors, patient saliva and blood have been collected.  Whole-exome sequencing on the tumors and germline DNA testing on saliva has been done to compare the genetics of the tumor with the individual’s normal cells.

Answers in Genetics

In this process, 30 genes were identified as altered in the angiosarcomas. Some of these genes had already been discovered in previous research, but the “Count Me In” research uncovered others not known to be involved in angiosarcomas like PIK3CA, GRIN2A, and NOTCH2. The research also found two genes that were specific to different types of angiosarcoma.

Mutations of PIK3CA were found more frequently in angiosarcomas of the breast. With this vital information, oncologists now know that PI3Kα inhibitors that have been approved by the FDA for breast adenocarcinoma may also be used for patients with breast angiosarcoma.

Another difference among the types of angiosarcomas was in the tumor mutational burden (TMB) or the amount of mutations that a tumor had. For the head, neck, face and scalp (HNFS) angiosarcomas, which make up about 60% of all angiosarcomas, the TMB was very high and it looked similar to mutations caused by ultraviolet light. This would make immune checkpoint inhibitors that are used with melanoma useful treatments for HNFS angiosarcomas. And, in fact, this study found that the oncologists of two patients who had been through all the treatments available for metastatic angiosarcoma (deemed “refractory to standard treatment”), had actually prescribed off-label immune checkpoint inhibitors. Those two patients had “exceptional and durable responses” – they are NED more than two years since treatment. In short, the “Count Me In” project discovered a new treatment for this type of angiosarcoma.

Breakthrough Results

The results of this research cannot be underestimated. First, genomic understanding of angiosarcoma has been enhanced. Second, that understanding has uncovered new possible treatments for a cancer which has had few treatments. Third, the research process itself has been “democratized.” Patients and researchers have been learning from each other. As the results of the research have come in, they have been shared with the patients.

It has been five years since Corrie and the team at the Broad Institute and Dana Farber Medical Centers started the “Count Me In” studies of cancers. In that short time, by partnering with patients, much has been accomplished.

Be sure to read our earlier posts about Corrie Painter and the “Count Me In” projects: Angiosarcoma Awareness: Bridging Barriers Online and Patients Included In Research: Studying Cancer by Mutation Not Organ. Here is a link to the letter to Nature MedicineThe Angiosarcoma Project: enabling genomic and clinical discoveries in a rare cancer through patient-partnered research.”