Patient-partnered research yields invaluable insight on rare cancer

Through a unique collaboration with affected patients, researchers have conducted the largest angiosarcoma study and uncovered clues to previously unknown causes and potential therapeutic strategies for this rare cancer, which often confers poor prognosis.

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As a result of the Angiosarcoma Project – a unique collaboration between affected patients and researchers – investigators from the Broad Institute of the Massachusetts Institute of Technology and Harvard, Dana-Farber Cancer Institute (both MA, USA) and Count Me In have uncovered potential new causes of angiosarcoma and possible therapeutic strategies for this rare cancer, which often confers poor prognosis.

Launched in 2017, the Angiosarcoma Project is a unique patient–researcher partnership project, which encourages patients to voluntarily contribute their personal perspectives, medical records and tumor samples, in order to accelerate necessary, patient-centered research into the causes and potential treatments for angiosarcoma – a rare cancer of blood vessel walls.

Approximately 300 individuals are diagnosed with angiosarcoma each year in the USA; due to the small number of affected individuals, uniting this scattered patient population to derive critical insight is essential. Within 18 months of project launch, 338 patients with angiosarcoma had registered for participation, representing a significant proportion of all angiosarcoma patients across the USA.

In this study, researchers sequenced the protein-coding genomes of 47 tumor samples donated from patients with angiosarcoma from across the USA and Canada; published in Nature Medicine, investigators detail 30 genetic mutations in the samples that may have caused the cancers, some of which were previously unknown to be associated with the cancer. Further, the work highlights a number of FDA-approved cancer therapies that could be repurposed for the treatment of certain angiosarcomas.

Investigators observed that mutations in PIK3CA – which result in hyperactivation of the protein – were common in samples from patients with angiosarcoma of the breast; this suggests that inhibiting the PIK3CA signaling pathway with FDA-approved PI3 kinase inhibitors could be a beneficial therapeutic approach for patients with certain forms of breast angiosarcoma.

Co-first study author Corrie Painter (Broad Cancer Program and Count Me In) commented: “Findings like this can really open up the doors in terms of how we think about genes in tissue-specific contexts for cancer tumorigenesis. We never would have had that insight without [these] data.”

Further, researchers determined that angiosarcomas of the head, neck, face and scalp are associated with a greater mutational burden compared with other angiosarcoma forms; the mutation pattern of these cancers has been associated with DNA damage from ultraviolet radiation, suggesting that sun damage may have caused the cancer in these patients.

Immune checkpoint inhibitors have been demonstrated effective for targeting tumors with high mutational burden, suggesting that these drugs may be beneficial for certain individuals with head, neck, face and scalp angiosarcomas.

Senior study author Nikhil Wagle, Director of Count Me In, stated: “This work was only possible with our patient partners. The scientific insights they've helped generate have shed new light on the poorly understood roots of angiosarcoma, which urgently needs new treatment options for patients.”


Sources:

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 (2020) (Epub ahead of print);

https://broadinstitute.org/news/patient-partnered-research-finds-clues-about-rare-cancer%E2%80%99s-genetic-roots

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Ilana Landau

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