Rare Disease Day 2022: IARC highlights the burden of rare cancers

Scientists at the International Agency for Research on Cancer (IARC) have formed the Rare Cancers Genomics Team to develop innovative research projects on rare cancers to improve the prognosis of patients diagnosed with these rare diseases. Rare cancers are cancer types with fewer than 6 newly diagnosed cases per 100 000 people per year. Rare Disease Day is marked on 28 February each year.

Taken individually, none of these cancer types are major causes of disease. However, taken as a whole, rare cancers account for about 25–30% of all cancer diagnoses and 25% of cancer deaths, representing a substantial burden of disease. Despite the high collective occurrence of rare cancers, basic science research, clinical trials, and approval of new therapies for these rare diseases are lacking. This means that patients with a rare cancer type have a worse prognosis than those with more common cancer types.

The Rare Cancers Genomics Team studies the molecular characteristics of rare cancers, to understand their etiology and carcinogenesis processes. The team does so through various approaches: by performing integrative molecular analyses of multi-omics data generated from tissue samples; by integrating big data generated from large-scale genomics initiatives; by using image-based deep learning to review and identify new morphological characteristics; and, with external partners, by using state-of-the-art in vitro organoid models to study cancer initiation and progression.

Although tens of thousands of patients worldwide may be living with a particular rare cancer type, the geographical dispersion of the patients often limits the number of cases seen at any one institution. This makes recruitment for clinical trials extremely challenging and stalls efforts to test emerging therapeutics. Therefore, providing new approaches to study rare cancers that help to overcome the intrinsic limitation of low numbers is key to improve the clinical management of patients.

With a view to addressing these challenges, increasing the pool of data, and facilitating access to it, the Rare Cancers Genomics Team is strongly committed to open science. The team makes available all the resources needed to reproduce the analyses, including raw and processed data, interactive computational notebooks, user-friendly tumour maps that anyone can explore in a web browser, and bioinformatics pipelines.

The current cancers of interest and studies led by the Rare Cancer Genomics Team are the following: neuroendocrine neoplasms (lungNENomics and panNENomics); malignant pleural mesothelioma (MESOMICS); and soft tissue sarcomas and carcinosarcomas (SARCOMICS).

IARC Rare Cancers Genomics Team

Rare Cancers Genomics initiative

Rare Disease Day website