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Rare Disease Day 2019: What makes a cancer rare and how can research help?


On 28 February organisations around the world will be working to raise awareness of rare diseases for Rare Disease Day. Tilly Haynes looked into what qualifies as a rare cancer, and how researchers at The Institute of Cancer Research, London, are working on some of them.

Posted on 28 February, 2019 by Tilly Haynes

Papanicolaou stained smear of a clival chordoma

Image: Papanicolaou stained smear of a clival chordoma. Credit: William R. Geddie. License: CC0

With more than 200 different types of cancers, it can be difficult to decipher which are rare and which are subtypes of more common cancers.

It is generally thought that rare cancers are ones diagnosed in fewer than 6 in 100,000 people each year. According to Cancer Research UK, this means that one in five people diagnosed with cancer in Europe have a rare type.

Although these rare cancers occur in relatively few people, when the number of all of rare cancer diagnoses are accumulated, 46 per cent of cancers diagnosed are rare and less common cancers. 

Rare cancer research at the ICR

As a world-leading cancer research organisation, the ICR has researchers working on many different types of cancer, including the rare ones.

We have led studies into the causes of rare cancer and clinical trials for potential ways to treat them.

The ICR is an internationally leading research centre in the study of childhood cancers and cancers in children, teenagers and young adults.

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Bile duct cancer

Cancer of the bile ducts (small tubes that connect the liver to the small intestines) is a rare cancer which mainly affects adults aged over 65.

Sadly most cases of this disease, which is also known as cholangiocarcinoma, are inoperable and incurable.

But Dr Chiara Braconi, a Senior Researcher here at The Institute of Cancer Research (ICR), has taken a special interest in the disease.

With colleagues at the ICR, Dr Braconi recently found a promising new way to treat bile duct cancer. A type of drug called an Hsp90 inhibitor, which was discovered at the ICR, was found to be effective at killing bile duct cancer cells in the lab.

These promising results were also found when the drug was tested on 3D ‘mini tumours’ grown from cells taken from bile duct cancer patients, which more closely resemble what happens inside a patient.


An ICR team, led by our CEO Professor Paul Workman, contributed to a major international collaborative study which discovered a new targeted treatment approach for chordoma – a rare and difficult-to-treat bone cancer.

The study identified a class of drugs which were able to stop the cancer cells growing and spreading. Some of these drugs are now undergoing clinical trials for treating chordoma patients. 

Childhood cancers

With around 1,600 new cases diagnosed each year in the UK, childhood cancer is also classified as a rare cancer.

Research taking place here at the ICR is advancing options for children and their families. Together with our partner hospital The Royal Marsden NHS Foundation Trust, we are an internationally leading centre in research and in developing new treatments for childhood cancers.

Much of the vital work into childhood cancer at the ICR relies on funds raised by our family charity partners, who are motivated by a strong personal connection to a childhood cancer.

Diagnosing childhood brain tumours

One of our researchers, Professor Chris Jones, recently conducted the largest ever study of a type of brain tumours called gliomas, in order to uncover what drives the development of childhood brain tumours and how to treat them.

His team found these tumours are actually 10 different diseases that should each be diagnosed and treated based on their specific genetic faults. This new categorisation could lead to more accurate diagnostic tests and ensure each child receives treatments with the best chance of success.

Testing for childhood cancer genes

A new genetic test was developed by a team at the ICR, led by Professor Louis Chesler, working with colleagues at The Royal Marsden, to help personalise children’s cancer treatment.

The test works by combing through 81 different cancer genes in children with solid tumour cancers to look for mutations that doctors might be able to target using new or existing drugs.


Rhabdomyosarcoma is a particularly aggressive type of soft tissue sarcoma which rarely occurs in adults, but accounts for 7% of childhood cancers.

Currently treatment options for this disease are very harsh and can leave the children and young people affected with severe long-term side effects, such as loss of mobility, growth impairment, and an increased risk of developing another cancer as a consequence of their therapy.

At the ICR, Professor Janet Shipley is leading research into the disease with the aim of improving treatment options for children and young people with this form of sarcoma.

Much of the vital work into childhood cancer at the ICR relies on funds raised by family charity partners. 

Challenges facing research into rare cancers

One of the major barriers facing patients with rare cancers, and the clinicians that care for them, is the sparse knowledge of the biology behind the cancer.

There are often only a few researchers in the world who study each rare cancer, making it difficult to gain and share knowledge about each one.

It can also take longer to get a clear diagnosis for rare cancers as more tests and specialist referrals are often required.

Trialling new treatments for rare cancers

Because cancer treatments must first be taken through clinical trials to ensure they are safe and effective, treatments for rare cancers are often far and few between.

Successful clinical trials require large cohorts to guarantee meaningful results – a factor that can be difficult to achieve when you are one of only a few people in the world that have your cancer type.

To tackle this problem, Professor Chesler is also working with colleagues across the UK to lead an ambitious precision medicine programme to match each child diagnosed with cancer in the UK to clinical trials of targeted cancer medicines. 

This not only allows more children to receive potentially life-saving treatment, but could also increase the number of drugs approved for childhood cancers – an effect that could improve the lives thousands of children in the UK alone.

Living with and beyond rare cancer

As well as it being difficult for clinicians to find out information about a specific rare cancer, patients also often find it difficult to inform themselves and get guidance about their disease.   

Lydia Brain told me about her experience of diagnosis and treatment for a rare form of cancer, inflammatory myofibroblastoma in the uterus:

“In one of my oncologists letters he referred to my cancer as ‘vanishingly rare’. Sounds poetic, but the lack of evidence and experience with my type of cancer, especially in the womb, made treatment a complete stab in the dark.

“There was only one paper published with 10 patients, with no follow up on any of them. So we had absolutely no idea which treatment pathway would be right for me. It took months of researching and tumour analysis to come up with some treatment options. If my tumour had been faster growing, I may not have had the luxury of this time.”

Due to the low numbers diagnosed, it can be hard to find patients with the same disease to share experiences and get support.

On their own the numbers of people affected by a single rare cancer might seem very small, but together they make up a huge portion of cancer diagnoses – and that number is far too big to ignore.

Hopefully, through initiatives like Rare Disease Day, there will be greater awareness of the challenges faced by people living with rare diseases, including cancer.


Chris Jones Paul Workman childhood cancer Louis Chesler Janet Shipley rare cancers Chiara Braconi bile duct cancer rhabdomyosarcoma family charity partners chordoma HSP90 inhibitors
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