Seven Challenges and Five Goals for Overcoming Them
By KATHRIN SCHUSTER, Executive Director of SPAGN
July is Sarcoma Awareness Month. The aim is to promote an understanding of sarcoma, a rare form of cancer that originates in the connective tissues of the body, such as bones, muscles, and nerves. Sarcomas can affect individuals of all ages, including children and young adults. Sarcoma Awareness Month also highlights the goals of the sarcoma community: the importance of early detection, timely diagnosis, and access to specialized care. It also serves as an opportunity to support patients, survivors, and their families, while encouraging further research and advancements in the treatment of sarcoma.
Unfortunately, rare diseases such as sarcomas pose major challenges in diagnosis, management, treatment and research.
Challenge #1: Sarcomas are different
Anyone with a diagnosis of cancer wants to live and survive with as high a quality of life as possible. However, survival with a sarcoma is influenced by a wider range of factors than other cancers: these include tumor heterogeneity, location, and grade, as well as the age of the patient. And it is in survival that significant differences between common and rare cancers become apparent: While the 5-year survival for common cancers is 63.4%, only about 48.5% of patients with a rare cancer diagnosis live beyond 5 years.1
Challenge #2: Sarcomas are rare and heterogeneous
Sarcomas are not only very rare, but they also form a very complex group of different tumors, some of which differ greatly in prognosis, course and therapy. Not least because of this, there are many unanswered questions. Far too little is known so far about the more than 100 different subtypes of sarcoma. Consequently, the treatment and management of these diseases are particularly challenging.
Challenge #3: There are no reliable figures
At present, the incidence and prevalence of different sarcoma types are based on estimates: In most countries, it is unclear how often these tumors actually occur. The reason for this is that there currently is often no way to precisely record and map their occurrence, because most countries do not have a comprehensive, nationwide register for them. Existing regional cancer registries also show deficiencies in the recording and coding of these rare diseases.
Challenge #4: Diagnosis is often time-delayed and incorrect
We know that the time of diagnosis is of decisive importance for the further course and prognosis of the patient. The earlier a sarcoma is detected and treated, the better the chances of survival are. The prerequisite for this is an early and, above all, correct diagnosis. It is not uncommon for patients to go from doctor to doctor for several weeks and sometimes even months until a correct and reliable diagnosis can finally be made. When this happens, valuable time is often lost. One reason for delayed diagnosis is the fact that sarcomas can occur in different localizations. This means that the first medical contact can be made with many different specialists, ranging from the family doctor to the dermatologist, dentist, orthopedist, gynecologist and physiotherapist. The specialist often doesn't immediately consider the rare possibility of sarcoma as part of the differential diagnosis.
Challenge #5: Multidisciplinary treatment is needed
There are many types of sarcomas, and they can occur anywhere in the body and at any age. In addition to the challenge of making an early and correct diagnosis, multidisciplinary treatment is essential for the optimal management of sarcomas. Moreover, besides oncologists, surgeons and pathologists, some differential diagnoses require the involvement of experts in specialized fields such as gynecology, dermatology or even pediatrics or pediatric oncology. The reality is that the coordination of care and the referral of patients to sarcoma specialists (if there are any at all in the respective country) do not always go smoothly – and yet, the comprehensive management of sarcomas is essential for the best possible treatment.
Challenge #6: Research is chronically underfunded
Research into sarcomas is chronically underfunded. Often, existing public funds are allocated to common cancers instead of to sarcomas. The interest of the pharmaceutical industry is low: Much less money can be made with such rare diseases as sarcomas than with more common tumor diseases. Even drugs that have already been approved in other indications and have shown success in case studies or smaller academic trials are not investigated further or brought to approval (and thus are not reimbursed). The effort involved in submitting or extending a marketing authorization is disproportionate to the expected income. While for many potentially effective medicines, off-label use remains an option, in some countries it is not option at all. Both the pharmaceutical companies and the authorities responsible for the approval procedures need to take action.
Challenge #7: There is too little knowledge of sarcomas
Sarcomas belong in the hands of experts. Unfortunately, there is still too little awareness of the disease complex "sarcomas", both among treatment providers (non-sarcoma experts) and in health care systems generally. Too many sarcoma patients are still being treated by medical professionals who have no experience and expertise with sarcomas. Incorrect and false treatments can have dramatic consequences for those affected, from functional limitations to a significantly worse prognosis. They also mean considerable additional costs for the health system. The certification of designated sarcoma centers would help here.
Five goals for overcoming these challenges
The survival of sarcoma patients can only be improved in the medium to long term through the best possible treatment from the beginning and through the professional collection and evaluation of tissue and data. Experts and patient representatives are working on this together in sarcoma advocacy organizations all over the world.
These are five of the goals we are pursuing to overcome the challenges posed by sarcoma:
- Patients should receive information, help and support right from the start
- Patients’ tumors should be molecularly/diagnostically processed
- Patients should be treated on the basis of individual, personalized therapy plans following the recommendations of sarcoma boards and/or expert guidelines
- Patients should be offered innovative/experimental therapies when relevant
- Patients should be given the chance to be part of research from the very beginning.
1 Gatta G et al. Burden and centralised treatment in Europe of rare tumours: results of RARECAREnet-a population-based study. Lancet Oncol. 2017 Aug;18(8):1022-1039. doi: 10.1016/S1470-2045(17)30445-X. Epub 2017 Jul 4. Erratum in: Lancet Oncol. 2017 Aug;18(8):e433. PMID: 28687376.