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.

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.

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.

The aim of this transversal project is to translate our multi-omics tumor profiling into the clinical setting without the need to generate costly and complex-to-analyze molecular data. To do this, we are exploring how different deep-learning computer vision algorithms can detect morphological features that pathologists will be able to recognize, with the ultimate goal to improve the diagnosis and treatment of rare cancers.

The cancer ecology and evolution project of the rare cancers genomics team is a transversal research program led by Dr. Nicolas Alcala that aims to build a theoretical and analytical framework of cancer formation and development. The project makes use of existing mathematical and computational models, as well as development of new methods, applying them to the multi-omic data generated within other team projects (lungNENomics, panNENomics, MESOMICS, and SARCOMICS).