Sarcoma: advances and challenges in treating a rare disease

Today Sarcoma Awareness Month comes to a close. To shine a light on this rare type of cancer, Clinical Sarcoma Research speaks to Estelle Lecointe, president of a patient association that works with sarcoma research networks, about the advances and challenges in research and treatments for the disease.

What is sarcoma and who does it affect?

Sarcomas are rare tumors which represent less than 1% of all cancers and affect approximately 25,000 new cases per year in Europe.

These very complex and heterogeneous tumors are also allocated into more than 50 histotypes and 150 molecular subtypes. This huge diversity induces very low incidences and the various locations where they may arise almost make each patient a unique case.

Altogether, they are divided in 3 groups: Soft Tissue and Visceral sarcomas, Bone sarcomas, and Gastro Intestinal Stromal Tumors (GIST). They can affect both children and adults.

What is known about the causes of sarcomas?

The identification of the potential causes of sarcomas still remains a big issue as we know almost nothing about their origins.

Except in very rare cases, sarcomas have not been proven to be hereditary.

What recent advances have there been in sarcoma treatment ?

Despite the great therapeutic advances which have been observed in oncology over the last ten years and the development of targeted therapies, treatment definitely remains a critical issue in sarcomas especially for advanced and/or metastatic tumors which are not eligible for surgery.

Today, sarcomas still suffer from a very limited armamentarium. There are few available drugs on the market.

Today, sarcomas still suffer from a very limited armamentarium. There are few available drugs on the market (only 6 with market authorization and about 10 in clinical trials).

This means that treatments which are currently used (and which mostly consist in conventional chemotherapies with a long list of severe side-effects) remain inefficient in many subtypes, as many sarcomas are well-known to be aggressive and chemo-resistant.

However, things are starting to move forward with the arrival of innovative therapies offering additional therapeutic lines with better survival rates and quality of life.  We also have great expectations regarding immunotherapy which will probably play an important role in the future.

What challenges are yet to be overcome?

There are still a lot of challenges to be overcome as the rarity of sarcomas is actually the patients’ worst enemy.

The first challenge lies in the identification of the symptoms. Indeed, sarcomas are so rare that they are totally unknown to the general population who ignores everything about the signs which might suggest the potential diagnosis of sarcoma.

There is no possible screening, and no information campaign to raise people’s awareness on sarcoma symptoms. This goes some way to explain why many patients are diagnosed at advanced stages, once the tumor starts to be painful or disabling.

The second challenge lies in medical training, as sarcomas are rarely studied in medical schools or very briefly. Sarcoma symptoms can sometimes look so ‘common’, that they are often misunderstood and misinterpreted by non-specialist doctors.

Sarcomas are rarely studied in medical schools or very briefly. The problem is that sarcoma symptoms can sometimes look so ‘common’, that they are often misunderstood and misinterpreted by non-specialist doctors.

They frequently underestimate the severity of the symptoms, assimilate the signs to ‘benign issues’ such as stress, fatigue, tendinitis, and sometimes even refuse to prescribe further exams thinking these insistent patients are simply hypochondriacs. This lack of knowledge often leads to late diagnosis with a dramatic impact on patients’ survival and/or quality of life.

Access to diagnosis is another critical issue. Sarcoma diagnosis definitely requires expertise, and a biopsy should be performed by an experienced radiologist or surgeon. Biopsy in sarcomas is very technical and therefore has to obey very strict rules defined by specific guidelines.

Finally, diagnosis has to be confirmed by a second review performed by an expert pathologist. Yet, access to correct diagnosis remains heterogeneous in Europe depending on the country and many patients are still treated for sarcomas they do not have…and vice & versa…

Because of the rarity of these tumors, expertise is the gold standard in sarcomas. It is vitally important for sarcoma patients to have access to appropriate care. Unfortunately there is a big lack of visibility of sarcoma expertise.

On this basis, patients rarely know where they have to go to be properly treated. In many EU countries this difficulty is increased by the fact that there is no ‘labelled’ or  ‘official’ sarcoma expert center at all. This difficulty becomes even bigger if these countries are also deprived of patient organizations able to orientate the patients in the right direction.

How does the comparative rarity of sarcoma affect approaches to research and finding new treatments?

The very low number of patients in some specific subtypes can sometimes be an obstacle for research. Indeed, it is difficult, even almost impossible for the research teams to collect relevant data and design specific studies for very small cohorts of patients at national level.

The solution of course, lies in European/international cooperation so as to gather the cases in common studies. Today, many cooperative groups such as the EORTC Soft Tissue and Bone Sarcoma Group, and the World Sarcoma Network apply this strategy in order to meet the needs of the patients.

As far as finding new treatments is concerned, it has been really difficult for years to convince the pharmaceutical companies to develop drugs for rare tumors.

Now that we are able to identify genetic abnormalities things have changed. We have proved that rare tumors with specific alterations could sometimes be a good ‘starting point’ for the evaluation of drugs which were initially designed for more common tumors. This change of mindset now allows us to offer therapeutic options in subtypes which were sometimes totally deprived of treatment.

What is your own experience of sarcoma?

I was diagnosed myself with GIST which is the most frequent sarcoma.

It happened to me in 2004 and at that time, there was no GIST patient organization in France, what also meant no information for patients at all.

When I contacted the French Cancer League, several days after my own diagnosis, to get information about GIST, the only information I was given was : “GIST : Orphan cancer”.

When I contacted the French Cancer League, several days after my own diagnosis, to get information about GIST, the only information I was given was : “GIST : Orphan cancer”. I found this definition both violent and unfair. It made me feel like I was the only one on Earth with this disease, that no one had ever heard about it, and that there would probably be no treatment at all.

This is how I decided to found the French GIST patient organization – Ensemble contre le GIST – in October 2005 as my belief is that every patient should have the right to know what he has been diagnosed with, how it can be treated, and where.

The relationship the organization established with the French Sarcoma Group went so well that several years later, in 2009, they asked me to extend the topic to sarcomas. This is how ‘Info Sarcomes’, the French Sarcoma Patients Organization was born.

The same year, my European colleagues and myself decided to create a European coalition gathering all the GIST, sarcoma and Desmoïd tumors patients groups from the EU community : Sarcoma Patients Euro Net (SPAEN). Today, I have the pleasure to co-chair the organization with my German colleague : Markus Wartenberg.

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