Health-related quality of life measurement strategy for solid rare cancers

Patients diagnosed with a rare tumour type report poorer psychosocial outcomes and impaired health-quality of life (HRQoL). HRQoL is often assessed with generic measures lacking content validity. Specific HRQoL assessment is important to understand the variances in quality of life patients experience. This study aims to examine how HRQoL is currently assessed in clinical solid rare cancer research and identify specific HRQoL issues patients experience. Moreover, we aim to identify specific issues patients with a solid rare cancer experience in the healthcare system related to the rarity of their disease, and test the content validity of the stand-alone healthcare-related and tumour-specific EORTC questionnaires for patients with a solid rare cancer at the same tumour-location. We will conduct an international, multicentre, mixed-methods study among solid rare cancer patients >18 years. First, systematic literature reviews will be performed. Subsequently, we will perform semi-structured interviews with patients and healthcare professionals (HCPs) and ask them to rate the EORTC questionnaires for their particular (rare) cancer experience. Basic quantitative analyses, including descriptive statistics (e.g. % missing data, mean and standard deviations) will be used to analyze patient and HCPs data. The outcomes of the project will result in standards of the HRQoL measurement in patients diagnosed with a solid rare cancer. 

The study closed its recruitment in August 2025. Fortunately, with 23 countries involved, we recruited data of 539 patients with solid rare cancers  and 209 healthcare providers. The first literature review has been published in the journal Cancers, the second literature review is currently under review. From the quantitative findings, one manuscript focusing on the healthcare experiences of these patients has been submitted to the journal online, and the second key publication is currently being written and is intend to be publish during the summer of 2026.

The second key literature review is currently with the co-authors, and will be sent to the EORTC QLG EC in April. We are aiming to have it be published at BMC Health Services Research. Quantitative analysis of the healthcare data of patients and HCPs is currently submitted on ESMO Open. The other quantitative manuscript, focusing on the quality of life questionnaires is currently being written (March 2026) and is intended to be published by summer 2026.

The qualitative data of the project has been cleaned and a data plan is being set up to analyse all interviews.

Rare cancers consist of more than 186 types. We know that the type, location, and stage of cancer, the type of treatment, as well as sociodemographic variables such as age and sex can be associated with the level of health-related quality of life (HRQoL) of patients. Because of its heterogeneity, it is fundamental to assess the impact of the diagnosis and treatment in terms of HRQoL. However, most time these assessments use generic questionnaires, lacking specific instruments. It is important to understand these variances when establishing a HRQoL measurement strategy. This study aims to raise standards of HRQoL measurement in patients diagnosed with a rare solid tumour type. Such a measurement strategy will ensure outcomes that matter most to rare cancer patients are encapsulated in future research and clinical practice.