Mutation mapping in esophageal cancer could improve treatment options

The mutations that cause esophageal adenocarcinoma (OAC) have been mapped with an unprecedented level of detail – revealing that more than half could be targeted by drugs currently being tested for others. types of cancer.

This research, published today in Nature Genetics, could help stratify patients with esophageal cancer to give them more personalized treatments. This could offer options that are not currently available to patients beyond chemotherapy, radiotherapy or standard surgery.

Researchers at Cancer Research UK at the University of Cambridge used whole genome sequencing and complete exome to map mutations of OAC, the main subtype of cancer. esophagus in England.

In the study, 99% of the patients had been mutated by ocular aortic cancer and more than 50% of them were sensitive to drugs (CDK4 / 6 inhibitors) already at the stage. clinical trials for bad cancer. This means that Phase II / III clinical trials to treat esophageal cancer could be feasible within one to two years.

Interestingly, it was found that women had more KRAS mutations than men. These mutations are often seen in other types of cancer, but rarely in esophageal cancer. This could indicate a different subtype of the disease in women and suggest that they may have a different prognosis or be eligible for other treatments.

Professor Rebecca Fitzgerald, a British scientist funded by Cancer Research and a senior researcher at the MRC Cancer Unit, said: "This research could completely change the paradigm of giving esophageal cancer patients the same chemotherapy that we do not always know effective, to more targeted treatments on the individual characteristics of a patient's cancer.

"We are designing clinical trials that provide real-time badysis of patient genes to provide patients with the best treatment based on their own genome.

"This research could also offer better options for older patients, more likely to develop esophageal cancer and who often are not fit enough for current treatment options."

Only about 12% of patients survive esophageal cancer for 10 years or more. This is due in part to a late diagnosis because the symptoms often do not manifest until the cancer is advanced, and partly because of limited treatment options. Scientists have found that more and more people are developing needle cancer in several countries in Western Europe, including the UK – risk factors include obesity and smoking. .

Professor Karen Vousden, Chief Scientist at Cancer Research UK, said: "Such research is crucial to improving treatment options and survival for patients with difficult-to-treat cancer, such as cancer." esophagus.

"Understanding what mutations are causing the disease could lead to targeted treatments and earlier detection, something that would never have been possible without the huge technological advances."

Cancer Research UK is committed to funding more research on hard-to-treat cancers, such as esophageal cancer, by increasing spending from £ 5 million four years ago to £ 16 million this year. year. In the United Kingdom, esophageal cancer is the thirteenth cancer in importance and the seventh leading cause of cancer deaths in the United Kingdom.