Rare cancers: research progresses, but policy lags behind

A Call to Action of Rare Cancers Europe encourages policy makers to take greater action to ensure rare cancers are not overlooked from the policy agenda. 


Research for rare cancers is progressing rapidly and outpacing European policy, and this risks to further limit current options to better diagnose and treat these malignancies.

At a European level, a new approach to tackle cancer was set out officially in February 2020 with the publication of Europe’s Beating Cancer Plan marking the beginning of a new era in cancer prevention and care. However, rare cancers did not find their place in the document despite they account for 24% of all new cancer diagnoses - i.e. 650,000 new rare cancer diagnoses annually and around 5.1 million people in the EU living with a rare cancer (Eur J Cancer. 2011 Nov;47(17):2493-511). For this, Rare Cancers Europe (RCE) launched a call to action, currently endorsed by 39 organisations, the 4 European Reference Networks (ERN) dedicated to rare cancers and several members of the European Parliament, to engage and encourage policy makers to take greater action to ensure rare cancers are not overlooked inthe policy agenda.

We would like to see rare cancers high in all policies in the EU as we believe the rare cancer community should be listened to.

Prof. Paolo Casali, Rare Cancers Europe

“We were concerned when we saw that the draft of Europe’s Beating Cancer Plan did not include a flagship on rare adult cancers,” said RCE Chair Paolo G. Casali, MD, at a virtual webinar on the topic hosted by Rare Cancers Europe and involving a pool of European Union (EU) representatives from policy and the rare cancers community.

“We would like to see rare cancers high in all policies in the EU as we believe the rare cancer community should be listened to,” said Casali, who chaired the webinar. “We recognise that the EU has made a big effort deploying in 2017 a total of 24 European Reference Networks on rare diseases, four of them on rare cancers.”

Europe’s Beating Cancer Plan aims to mitigate the impact cancer has on the society. Overall, the plan relies on several flagship initiatives to ultimately address issues concerning the entire pathway of cancer including prevention, early detection, diagnosis and treatment, and quality of life of patients with cancer and survivors. The RCE’s Call to Action advocates, among others, for the creation of a dedicated flagship on rare cancers to tackle the specific challenges faced by this underserved community and of a dedicated funding under Horizon Europe supporting the setup of a European partnership on rare cancers.

Encouraging novelties in diagnosis and treatment

Recent findings presented at the ESMO Congress 2021 show that clinical trials in rare cancers are challenging, but not impossible to deliver. Despite the many hurdles in recruiting patients and funding, encouraging steps have been recently taken to better diagnose and treat some rare malignancies thanks to collaborative efforts among clinicians and a widespread use of novel technologies.

As reported by the ESMO Daily Reporter, for instance, the FIRSTMAPPP trial - the first randomised study to explore the role of a multitargeted kinase inhibitor for malignant pheochromocytoma and paraganglioma (MPP) - highlights the importance of clinical trials in rare tumours being designed so that patients can be offered evidence-based therapy options.

The investigators set up an independent data monitoring committee to monitor, among other things, study accrual to overcome recruitment challenges in rare tumour settings. The study required participation of multiple centres across France, Germany, the Netherlands and Italy, and a long recruitment period of 8 years to enroll a total of 78 patients. Results are now available and are likely to impact patient management moving forward.

Also, important incremental steps have been taken towards a broader implementation of next-generation sequencing (NGS) to identify druggable alterations in rare tumours, thus ultimately increasing care opportunities for patients. There is a limited appeal for conducting adequate clinical trials in rare malignancies due to their rarity which makes them more difficult to study. By identifying potentially druggable genetic alterations, a new door is opening to specific clinical trials that explore newer targeted anticancer drugs, allowing smaller patient populations and speeding up drug development. Promising results were presented this year on the use of molecular profiling in sarcoma, mesothelioma and cancer of unknown primary (CUP).

Finally, in 2021 ESMO published its recommendations for the management of gastrointestinal stromal tumours, which for the first time used the ESMO Scale for Clinical Actionability of molecular Targets (ESCAT) to identify molecular targets. Overall, this represents a significant advancement toward precision medicine in rare cancers.

Despite these early advances, more efforts are needed to support global research in the field. For this, the RCE’s Call to Action advocates for dedicating research funding to rare cancers and for the creation of a dedicated framework to incentivise research in biomarkers for rare genomic alterations to improve early detection and an accurate diagnosis.

Extending Patients’ Rights

Inequalities in access and availability of quality care may undermine the potential effects of new diagnostic tools and treatments under development for rare cancers. At the ESMO’s webinar, European Parliament member Peter Liese, from Germany, highlighted that there are concrete obstacles to the cooperation among researchers from different countries who want to set up clinical trials due to different interpretation of the legislation. This ultimately affects patients seeking for specialised cancer care and, overall, their right to be treated with the best therapeutic options available. According to Liese, life should be made easier to anyone who wants to do cross-border cancer research. “We have a directive, but the implementation is not as it should be, and also the directive itself doesn’t include all the rights that the court of justice already established in individual cases, so we can go further in the borders of the existing treaty.”

Although there is a clear commitment at a European level to extend rare cancer patients’ rights, according to Kathy Oliver, European Patient Advocacy Group (EPAG) Representative for ERN EURACAN and RCE Steering Committee Member, there is a long road ahead to optimal management of rare cancers-related issues.

“Now, more than ever, rare cancers need to be in all policies across the spectrum of national and international healthcare goals,” she concludes acknowledging the steady progress made by the ERN in the last four years which are, however, far to be complete. “Challenges remain: concerns about sustainability worry us greatly, cross-border medical cooperation needs to be even stronger, harmonised digital platforms are needed to track, share and discuss rare cancer cases in a secure and sustainable way, workforce training of rare cancer needs to be set up and inequalities must be eradicated.”

Rare Cancers Europe (RCE) is a multi-stakeholder partnership, founded in 2008 and coordinated by ESMO, bringing together a total of 40 scientific societies, patient and research organisations, healthcare and education providers, and the pharmaceutical industry. RCE has four overarching goals: improving the methodology of clinical studies and regulatory practices in rare cancers; improving the organisation of healthcare in rare cancers; improving access to rare cancer treatments and standard of care; improving the education of healthcare professional and information on rare cancers.

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