Rationale & Aims

Rare cancers account for ~25–30% of all cancer diagnoses and 25% of cancer deaths, representing a substantial burden of disease. However, basic science research, clinical trials and approval of new therapies for rare cancers are lacking. This translates into a worse prognosis for patients with a rare cancer than for those with common cancers. With the number of rare cancers increasing, finding more appropriate solutions for diagnosing, managing and studying rare cancers is essential.

Our Projects
Rare Cancers Genomics
  • lungNENomics project
  • MESOMICS project
  • panNENomics project
  • SARCOMICS project
lungNENomics project
lungNENomics project
Pulmonary carcinoids, including the low-grade typical carcinoids and the intermediate-grade atypical carcinoids, belong to the group of lung neuroendocrine neoplasms that also includes the high-grade large-cell neuroendocrine lung carcinomas (LCNEC) and small-cell lung cancers (SCLC). It has been widely accepted that well-differentiated pulmonary carcinoids have unique clinico-histopathological traits with no causative relationship or genetic, epidemiologic, or clinical traits in common with poorly-differentiated, high-grade LCNECs and SCLCs. However, several recent studies suggest that a molecular link might exist between these diseases, especially between atypical carcinoids and LCNEC.
MESOMICS project
MESOMICS project
Malignant pleural mesothelioma is a rare, understudied cancer associated with exposure to carcinogenic mineral fibers, jointly known as “asbestos”. Most patients die within two years after diagnosis, mainly due to the limited available therapeutic and early detection opportunities. One of the reasons is the existence of only few molecular studies. Despite the ban of asbestos in many developed countries, the long latency of the disease together with the aging of the population, the increased environmental exposure, and the ongoing use of asbestos mostly in developing countries, among other factors, translates in malignant mesothelioma being an ongoing health problem.
panNENomics project
panNENomics project
The global scientific goal of the panNENomics project is to provide comparative analyses of the main molecular characteristics of understudied neuroendocrine neoplasms of all body sites (including the rare pituitary, head&neck, (para)thyroid, breast, genito-urinary, and skin NENs) and generate molecular maps to inform the clinical decisions in terms of diagnosis, prognosis and treatment. We believe that the setting of this project would provide an environment that promotes collaboration among experts in the field of NENs rather than competition.
Soft-tissue sarcomas (STS) with complex karyotypes constitute a puzzling and extremely diverse group of mesenchymal aggressive tumors, that can occur as early as childhood and in almost any part of the body, have unknown etiology, and poor response to standard treatments. Carcinosarcomas are a rare entity within all epithelial tumors with epithelial and mesenchymal (sarcoma-like) features, thought to originate through metaplastic transformation of the epithelial component. SARCOMICS aims to study the molecular relatedness between different types of STS with complex karyotypes and between STS and carcinosarcomas.
Meet the multidisciplinary team
Techniques and analytical tools
  • Whole-genome sequencing
  • RNA-seq
  • Single-cell sequencing
  • ATAC-sequencing
  • Spatial transcriptomics
  • Spatial proteomics
  • Digital pathology
  • Artificial Intelligence
  • Dimension reduction
  • Integrative analyses
  • Multi-region sequencing
  • Organoid models
Latest News
Rare Cancers Genomics

Upcoming oral talk at Pulmonary Pathology Society Biennial Meeting (25th June 2022)

Alexandra Sexton-Oates will give a talk on the molecular characterisation of small cell lung carcinoma ...

Lise Mangiante’s departure

Mixed feelings (pride and sadness) of seeing our talented PhD student, Lise Mangiante, moving to ...

Scientific discussions between Instituto de Salud Carlos III and IARC

Lynnette Fernandez-Cuesta presented the Rare Cancers Genomics initiative in these discussion series aiming at strengthening ...