Shedding light on the unknown in cancer

As a biochemist, I am trained to look at life at a molecular level – to delve into small details. The more I see at a micro level, the more I need to zoom out again to better understand the bigger picture: every person is unique, and so is cancer. Every cancer has its own “fingerprint.”

As humans, we like to label things. It helps our minds create structure and order. Cancer is no different – there are more than 200 different types and we label those, too. “He has lung cancer, she has breast cancer, he has prostate cancer, they have skin cancer …” But what if doctors can’t tell you what kind of cancer you have?

For those with Cancer of Unknown Primary, also known as CUP, doctors can’t identify the original (primary) tumour, and they only find metastases. Any cancer diagnosis can be emotionally traumatic, but it’s particularly difficult to hear “we don’t know where your cancer is coming from.” 

It creates practical problems, too. Traditional treatment approaches rely on the site of cancer origin being known, but between 2.3 to 5 percent of cancer diagnoses worldwide are Cancer of Unknown Primary. Most patients are treated with nonspecific chemotherapy; prognosis remains poor and the median survival following diagnosis is just six to 12 months. 

We’ve made tremendous progress in the past two decades fighting cancer in general, prolonging the lives of those diagnosed globally. That’s largely thanks to incredible advances in the scientific understanding of cancer and cell biology, and in diagnostic capabilities and treatments that followed. A key breakthrough? Sequencing of the human genome in the early 2000s made it possible to uncover and study the unique genomic profile of a person’s tumour, and that helps scientists see what drives each tumour’s behaviour and growth.

The traditional, one-size-fits-all cancer approach was based on tumour location – almost everyone was treated with the same non-specific options such as chemotherapy or radiotherapy, which can have limited success and cause severe side effects. 

Next-generation sequencing paved the way for comprehensive genomic profiling, a way of finding the unique “fingerprint” of a cancer tumour. This searches for genomic changes at the DNA level, across many cancer-related genes, to determine how a tumour behaves and grows. These changes can help physicians identify a targeted therapy, immunotherapy, or consider clinical trials tailored to the patient's tumour profile. And that’s leading to better outcomes, including improved overall survival.

For more than 20 years, Roche has helped lay the scientific groundwork for personalised healthcare with diagnostics that help doctors determine the right treatments for their patients, and treatments that target the underlying biology of each person’s disease. Now, with powerful insights from comprehensive genomic profiling, Roche and Foundation Medicine are helping physicians develop a personalised treatment strategy for each patient and enable smarter, more efficient research and development. Including those whose cancer origin is “unknown.”

At this year’s European Society for Medical Oncology congress, Roche presents data that sheds further light on the molecular landscape of tumors for patients with Cancer of Unknown Primary. The results highlight the potential of comprehensive genomic profiling to unlock more treatment options for patients suffering from this devastating disease. 

Our goal? Better outcomes, for more patients, faster. We believe every patient living with advanced cancer globally – known and unknown – should benefit from comprehensive genomic information to inform their care. This will redefine the way each patient with cancer is treated, make cancer a manageable disease, help many more patients with cancer live longer, fulfilling lives, and finally benefit from the increasing medical and scientific knowledge.