How to treat Ewing’s Sarcoma, the bone cancer that affects young people

How to treat Ewing’s Sarcoma, the bone cancer that affects young people

Among the reasons why we can thank social media is that of giving visibility to rare diseases that affect the very young. Like Leah Smith, a girl who became famous on Tik Tok and unfortunately passed away a few days ago at just 22 years old. Leah had Ewing Sarcoma, a rare, non-hereditary genetic disease that causes tumors to develop in the bone or adjacent soft tissue. In the vast majority of cases, the genetic alteration concerns the EWSR1 and FLI1 genes, on chromosomes 11 and 22, which fuse and give rise to an abnormal protein which leads to the uncontrolled proliferation of the cells in which this fusion occurred. Around 600 new cases of this cancer are diagnosed in the European Union every year, with 85% of cases occurring around the age of 15.

Ewing’s sarcoma mainly affects the femur and tibia, but it can also occur in other areas and can then spread to the bone marrow and soft tissues such as the lungs (in the metastatic phase). Pain and swelling are the most common symptoms, and weakening of the bones can lead to fractures. A complex, difficult and still not fully understood disease, but increasingly treatable especially thanks to advances in molecular biology: “The diagnosis occurs via X-ray radiography and magnetic resonance imaging, which allow us to understand how widespread the tumor is, and is confirmed through biopsy and subsequent molecular analysis – explains Emanuela Palmerini, oncologist at the IRCCS Istituto Ortopedico Rizzoli in Bologna – In the last ten years, thanks to new whole genome sequencing techniques, it has in fact been possible to discover other genetic anomalies, in addition to the more classic and frequent translocation between genome 11 and 22, to identify Ewing’s sarcoma”. This is why, in case of suspicion, it is important to contact a highly specialized center in pediatric oncohaematology.

The treatment path includes different phases: the first is called ‘induction’, followed by surgery or radiotherapy, or both. Finally, there is a consolidation phase and then, possibly, a maintenance phase.”The induction phase involves nine cycles every two weeks of a combination of chemotherapeutics: vincristine, cyclophosphamide, doxorubicin in addition to ifosfamide, etoposide – specifies the expert -. Subsequently, the response is evaluated at a histological level and a decision is made on how to proceed. In some cases, in fact, patients do not respond to this combination and we try the administration of other drugs, busulfan and melphalan which are highly cytotoxic and therefore are associated with an autologous transplant of peripheral blood stem cells”.

In Ewing Sarcoma, surgery, chemotherapy and radiotherapy are very effective. And it is precisely a multidisciplinary approach that has allowed us to achieve high probabilities of success. “Today we can carry out 3D reconstruction operations of the pelvis with computer-assisted techniques – underlines Palmerini – and in some complex cases we can use proton therapy, a particular type of radiotherapy that uses protons instead of X-rays. The improvement of each individual discipline has contributed to improving survival”.

The first distinction to make for prognosis is staging, or how the pathology presents itself at the beginning. In the most frequent case, the disease is localized at diagnosis, but metastases are present in 20% of patients. “In the localized form, thanks to current treatments, 5-year survival is now 80-85%”, says Palmerini.

The precision treatments to come

But research continues: studies are currently underway to evaluate the combination of standard treatment with inhibitors of cyclin-dependent kinases (CDK4/6), therefore targeted drugs (also called biologics), already used in other tumors. Furthermore, a clinical trial was proposed in 2021 to evaluate the effectiveness of an inhibitor of the “defective” EWS-FLI1 protein produced by the translocation. “The real innovation is the growing collaboration between research, through the Euro Ewing consortium, pharmaceutical companies, regulatory institutes such as EMA and FDA and, above all, patient associations – concludes Palmerini – The patient must always be at the centre: first during and after treatments”.



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