This article is part of our special report Rare cancers: Cracking the code.
EU member states are exploring ways to effectively tackle the rising occurrence and complex nature of rare cancers known as sarcomas.
Sarcomas are a particular group of rare cancer which, due to a low number of patients, has so far attracted little attention.
But this might change. A multi-stakeholder group of experts recently developed the Sarcoma Policy Checklist, an inventory of recommendations aimed at better managing sarcoma cases in Europe.
Sarcomas are a diverse family of rare cancers that develop in connective tissues and can affect virtually any part of the body.
But because so many different types of sarcomas exist, the diagnosis, treatment, research and policymaking surrounding them are challenging.
Six EU countries (Sweden, Germany, Spain, Italy, France and the UK) were profiled in the Sarcoma Policy Checklist, suggesting concrete steps for national authorities to take in order to improve sarcoma care.
Italy and France both provide interesting examples of national improvement efforts aimed at strengthening sarcoma care, in alignment with the policy recommendations in the report.
Approximately 4,000 people are diagnosed with sarcoma each year in France. In Italy, the numbers are higher, with an estimated 5,890 of new sarcoma cases annually.
Connecting sarcoma patients with specialists
According to experts, the existence of reference centers in every country is a key aspect for the effective management of sarcomas.
In France, there are 28 such centers. The French Clinical Reference Network for soft tissue and visceral sarcomas (NetSarc) has proven successful, as patients treated by surgeons and oncologists within the network have seen better outcomes than those treated outside the network.
However, France lacks adequate numbers of trained specialised sarcoma surgeons. As a consequence, many patients are treated by generalists who are not experts in the field. According to the report, the country is currently considering developing a national network for sarcoma surgery with the ultimate goal of creating a “sarcoma surgery community”.
Due to the complexity of sarcomas, experts recommend that patients seek a second professional opinion. Over 90% of patients have benefitted from second readings of their pathology reports by either the French Sarcoma Pathological Reference Network (RRePS) or the French Reference Network for bone sarcoma and rare bone tumours (ResOs).
Estelle Lecointe, who is President of InfoSarcomes one of the leading patient organisations in France for sarcomas, told euractiv.com that access to diagnosis definitely remained the biggest challenge in France due to the rarity of these tumors. This logically leads to a lack of knowledge in non-specialist doctors and general practitioners.
“Patients are often misdiagnosed with other more common or benign diseases and some patients often have to wait for weeks or months to get the right diagnosis,” she said.
The Italian Rare Cancer Network, for its part, helps to connect sarcoma reference centres but is based on voluntary participation only and lacks formal accreditation.
However, there are ongoing efforts to establish quality indicators, and around ten sarcoma reference centres in Italy were chosen to be part of the European Reference Network (ERN) for sarcoma.
“Patients affected by rare cancers face the main problem of finding the right place to go for treatment in the initial phase of the disease,” said Dr Alessandro Gronchi, a sarcoma expert at the National Institute of Tumors (Instituto Nazionale dei Tumori) in Milan.
“It still happens a lot that patients are initially treated in the community where there is no specific expertise and referred afterward,” he added.
No formal sarcoma training
While there is no formal training on rare cancers within the general medical curriculum or oncology training in either country, both have implemented some kind of specialised sarcoma training.
In Italy, there is a specialised surgical training programme for sarcomas at the European School of Soft Tissue Sarcomas. This is considered important by experts because surgeons are often the first place sarcoma patients go to seek care in Italy.
In France, an e-learning programme was set up by the Gustave Roussy Institute to better educate physicians and surgeons on sarcomas.
There are also ongoing discussions to include training on rare cancers in the future general medical school curriculum.
Lecointe explained that the second challenge for France was the “inappropriate surgery” as many patients are often diagnosed in non-specialist centers, where the first reaction is to remove the tumour (often confused with a cyst) without any prior biopsy and therefore without using the appropriate surgical techniques.
“This wrong initial management is unfortunately highly deleterious for the patients as the quality of the initial surgery will influence the overall outcome,” the expert noted.
Experts recommend sarcoma patients be cared for by a multidisciplinary team (MDT), a group of several healthcare providers from a variety of disciplines, following a specific care plan.
In France, guidelines for sarcoma MDTs are produced and disseminated by NetSarc. There is no national definition of the minimum health care professionals who should make up an MDT, but patients do receive a personalised care plan.
In Italy, MDTs are neither mandatory nor monitored, but standards and guidelines are being incorporated into accreditation criteria for reference centres in the Italian Rare Cancer Network. Beginning in 2017, the organisation of MDTs is required for centres to be part of the European Reference Network for sarcoma.
The state of sarcoma research
Investing in sarcoma research is another tough challenge, considering the low numbers of patients and the lack of business interest.
In spite of this, France has become a leader in sarcoma research in international cancer genome projects: since 2013, 142 rare cancer studies have been carried out or are ongoing.
Sarcoma research in Italy currently includes the collection of incidence, prevalence, and survival data by the Italian National Association of Cancer Registries (AIRTUM), but the registry covers only 50% of the Italian population and does not always provide detailed information about pathology and patient outcomes.
“The research in the field of rare cancers suffers the same fragmentation of care,” Dr. Gronchi said.
“And it is penalised by the lesser impact that research in rare cancer has in attracting grants, making high impact publications, getting visibility and so on and so forth,” Gronchi added, underlining that there are a number of centres dedicated to research in rare cancers and specifically in sarcomas.
“They are well known all over the world and have managed to do top notch activities, although with limited resources, but with a lot of enthusiasm,” he emphasised.
Because of this gap, the policy checklist calls for “prospective hospital-based data on the diagnosis, management, and outcomes of sarcoma patients”. Only two centres, in Milan and Bologna, currently collect this type of data.
The report also highlighted the significant research efforts being made for pediatric sarcomas in the country.
Accessing new treatments for rare cancers
Another prevalent issue for the EU is the use of orphan drugs to treat rare cancers like sarcoma.
However, there are ongoing efforts to improve drug access for rare cancer patients.
The Italian Sarcoma Group and the Association of Italian Medical Oncologists (AIOM) both have lists of sarcoma trials taking place in Italy.
In France, the Autorisation Temporaire d’Utilisation, a programme that provides early access pathways, exists for life-threatening conditions but has not yet been used for sarcoma medicines.
The NetSarc-ResOs network allows access to national clinical trials but it is limited for patients not treated in a sarcoma reference centre.
Denis Horgan, Executive Director of the European Alliance for Personalised Medicine told Euractiv: “As more-and-more rare diseases are discovered there is a school of thought that suggests that the huge costs of rare-disease therapies should be spread over, perhaps, decades. Another school feels that the risk should be shared by insurance companies pooling resources. Not surprisingly, neither idea is gaining too much traction in the ‘real’ world.”
“Pharmaceutical companies tend to prefer the ‘outcome based system’, with firms demonstrating that effective high-priced drugs and treatments can still reduce healthcare system costs over time. That’s a tough one to prove, of course, although the argument is that payers and providers may - just may - find that new cures will eventually undercut existing treatments, at which point they will approve and buy the drugs, and thus allow the pharmaceutical companies to get their money back,” he added.
“As the population ages and chronic and rare disease become relatively more common, one could argue that the pharmaceutical companies will have to react one way or another. Undeniably, the burden of rare diseases, such as sarcoma, on society is getting larger and will get larger still. Some governments have begun to develop special access programmes, such as compassionate use, which increases early access to so-called orphan drugs,” he emphasised.
Sarcomas are a diverse family of rare cancers that develop in connective tissues that can affect virtually any part of the body. But because so many different types of sarcomas exist, the diagnosis, treatment, research and policy-making surrounding them is challenging.
In the EU, it is estimated that there are 5.6 cases per 100,000 annually, representing 27,908 new cases per year.
For over 30 to 40 years there have been no significant advances in sarcoma treatments while effective treatment options are limited, especially for soft tissue sarcomas, which make up 84% of cases (bone sarcomas make up 14%). However, experts have noted that gastrointestinal stromal tumours (otherwise known as GIST) are an important exception, and have seen treatment advancements in recent years.
As a consequence, the survival rate is 47% for rare cancers versus 65% for common cancers.