EORTC celebrates Rare Disease Day: Addressing unmet needs in rare cancers

Chaired by EORTC President Prof. Winette van der Graaf, this task force brings together multidisciplinary expertise to stimulate scientific innovation and optimise efficiency. Its objective is to establish a European platform for rare cancer clinical research, leveraging existing infrastructures and partnerships to gain a better understanding of tumour biology, current treatments, and patient outcomes, while enabling interventional research.

Find out more from the Task Force chair:

Through the following research projects, SPECTA further advances research in underserved rare cancer populations:

• ARCAGEN – EORTC Research Project 1843: Developed collaboratively by EORTC and EURACAN, the project evaluated the prevalence of genomic alterations, tumour mutational burden (TMB), microsatellite instability (MSI), and their clinical actionability in patients with advanced rare cancers. The study demonstrated that molecular profiling is feasible in rare cancers, with a low failure rate and an average turnaround time of 14 days, opening new therapeutic possibilities for patients. The results have been published in ESMO Open, Annals of Oncology and nature partner journals (npj) Precision Oncology.
• AYA – EORTC Research Project 1759: A downstream initiative of SPECTA, this project focused on adolescents and young adults (AYA) with central nervous system (CNS) and sarcoma tumours. In collaboration with DKFZ (Heidelberg), comprehensive molecular analyses (WES, RNA sequencing, methylation assays) were performed. Molecular reports and pathology reviews were shared with clinicians and discussed within molecular tumour boards. This study demonstrated that comprehensive molecular profiling in adolescents and young adults with rare, aggressive cancers can correct initial diagnoses and uncover actionable or hereditary genetic changes that may guide more personalised treatment options. The final results were published in 2025.

ARCAGEN is a SPECTA platform downstream project. The SPECTA Platform is supported by Alliance Healthcare. Alliance Healthcare will become Cencora. ARCAGEN is a collaboration between EORTC and EURACAN and is funded by F. Hoffman-La Roche.

The AYA project was supported by The Boots Group.

EORTC has established several disease-oriented groups for rare cancers such as cutaneous lymphoma, sarcoma, brain tumours, uveal melanoma, and head and neck cancers. These groups run clinical trials, develop guidelines, and promote collaboration among experts. Current rare cancer initiatives led by these groups include:

• EORTC-2022-MG ATOM trial: Led by EORTC, the ATOM trial is the only active phase III clinical trial for adjuvant treatment of uveal melanoma, a rare cancer arising from the pigmented uveal tract of the eye. In collaboration with Immunocore, the trial will assess whether adjuvant treatment with tebentafusp reduces the risk of relapse compared with observation.
• EORTC 2013 BTG GLIO-RARE trial: This observational study evaluates treatment strategies and outcomes for patients with primary brain tumours classified according to cIMPACT-NOW recommendations and the 2021 WHO Classification, with the goal of optimising management and improving outcomes for newly defined rare brain tumour types. Amongst other funders and supporters, the trial benefited from a contribution raised as a result of an ETC cycling fundraiser in September 2025.
• EORTC 1820 MOGAT trial: Sponsored by EORTC, this trial aims to assess the efficacy of mogamulizumab in combination with total skin electron beam (TSEB) therapy in patients with early-stage cutaneous T cell lymphoma. The study will complete accrual in 2026.
• EORTC 1945 OligoRARE trial: EORTC leads OligoRARE, a randomised trial evaluating whether adding stereotactic body radiotherapy to standard-of-care treatment benefits patients with oligometastatic rare cancers. This intermediate disease state, characterised by a limited number of lesions, presents unique therapeutic challenges. The trial aims to improve overall survival and quality of life in a population with limited treatment options and poor prognosis.
• EORTC 1809 STRASS 2 study: STRASS 2 is a randomised phase III study comparing chemotherapy followed by surgery versus surgery alone in patients with high-risk retroperitoneal sarcoma, an aggressive and rare soft tissue cancer. The study aims to improve disease control and survival outcomes.

And many more initiatives are underway. Further information on ongoing trials is available on the EORTC website.

The EORTC-1809-STBSG – STRASS-2 / STREXIT-2 trial is being funded by Anticancer Fund (ACF), EORTC Soft Tissue and Bone Sarcoma Group, EORTC Cancer Research Fund (ECRF), Climbers Against Cancer, CRUK, Sarcoma UK, Novo Nordisk Fonden and Horizon Europe funding program (project 101103843), Australian Medical Research Future Fund and the Australia and New Zealand Sarcoma Association.

OligoRare is supported by Anticancer Fund (ACF), Rising Tide Foundation and Kom op tegen Kanker.

On 11 March 2026 in Lugano, the EU Cancer Mission, together with EORTC and leading European organisations, will launch the first Cancer Mission Forum for Rare Cancers.

This multi-stakeholder platform will address unmet needs in rare cancer research and care, and foster innovation and collaboration to deliver tangible solutions for patients and caregivers. The Forum aligns closely with EORTC’s long-term resolution to tackling rare and ultra-rare cancers.

Rare cancers require collective commitment, scientific excellence, and sustained collaboration. On Rare Disease Day 2026, EORTC highlights its ongoing commitment to ensuring that no cancer patient is left behind.