News Release

Posted: March 13, 2017

View the TCGA uterine carcinosarcoma findings in Cancer Cell, here.

TCGA Study of Rare Uterine Cancer Identifies Molecular Features

Researchers with The Cancer Genome Atlas (TCGA) Research Network performed a comprehensive genomic analysis of 57 uterine carcinosarcomas (UCSs), rare uterine cancers that account for fewer than 5 percent of all cases of uterine cancer. In the largest and most robust study of this rare cancer to date, published on March 13, 2017, in Cancer Cell, authors led by Rehan Akbani, Ph.D., and Douglas Levine, M.D., showed that UCSs share molecular characteristics with both gynecological carcinomas and sarcomas, and identified a number of potential targets for therapy.

Carcinomas are cancers of epithelial cells, which form cell layers that line surfaces within the body, such as the lining of the stomach and lungs. Sarcomas are cancers of mesenchymal cells, which are loosely organized and can migrate easily. The TCGA analysis of UCSs confirmed that they resemble both carcinomas and sarcomas on a molecular level. A common way of describing cancers is their EMT score, or epithelial to mesenchymal transition score, because this signature describes the ability of epithelial cancers (carcinomas), to transition into mesenchymal-like cancers (sarcoma-like cancers), which are highly mobile and can easily metastasize. The study found that UCSs demonstrated the largest variation in EMT scores of all cancer types studied by TCGA, highlighting the intermediate nature of these cancers between carcinomas and sarcomas. The study also identified commonly mutated genes and pathways that may be considered for targeted treatments and clinical trials. Almost all UCSs contained mutations in TP53 (91 percent), a tumor suppressor and the most commonly mutated gene in cancer. Half of all UCSs studied harbored altered genes in the PI3K pathway, which regulates cell growth, and more than a fifth harbored alterations in genes that regulate the cell cycle. This information provides important insight into this rare cancer and offers new potential therapeutic avenues for women with UCS.