panNENomics - Rare Cancers Genomics

The panNENomics project belongs to the Rare Cancers Genomics initiative aiming at the molecular characterization of “large” series of rare cancers through the integration of muti-omic data and detailed epidemiological and clinical information to generate a better understanding of these understudied diseases. Within this initiative we have already: (i) provided an integrative genomic profiling of large-cell neuroendocrine carcinomas revealing distinct subtypes of high-grade neuroendocrine lung tumors (George et al. Nat Commun 2018), which appears to be predictive of therapeutic response (Derks et al. Clin Cancer Res 2018); (ii) unveiled the existence of new molecular subtypes of pulmonary carcinoids, and particularly of interest a group named supra-carcinoids (Alcala et al. Nat Commun 2019); (iii) redefined malignant pleural mesothelioma types as a continuum uncovering immune-vascular interactions with clinical implications (Alcala et al. EBioMedicine In Press); (iv) contributed to provide recommendations for the classification of both malignant mesothelioma (Nicholson et al. JTO 2019) and neuroendocrine neoplasms (Rindi et al. Mod Path 2018); and (v) created the first molecular maps ( for malignant mesothelioma and lung neuroendocrine neoplasms, which would help the research and translational impact of molecular studies in these rare cancers. All the achievements above mentioned belong to two well-defined and ongoing projects: the lungNENomics and the MESOMICS projects. We are now expanding our research to the molecular characterization of neuroendocrine neoplasms of all body sites, with especial focus on those understudied (pituitary, head&neck, (para)thyroid, breast, genito-urinary, and skin). The rarity of these diseases requires large international collaboration. Therefore we are actively seeking for new centers to join.

Our research approach would include a discovery series constituted of patients with frozen tumour tissue and matched-normal/blood available, with also FFPE tumor material, as well as clinical and epidemiological annotations; and a replication series based on FFPE tumors.

Each center providing samples will:

– be remunerated per sample provided;

– be co-author(s) in the resulting manuscripts;

– have access to the molecular data corresponding to the samples provided;

– independently lead subsequent projects derivative from the initial work;

– be eligible to have access to the molecular data of the whole series after submission of a pertinent scientific question;

– collaborate with other participating centers; and,

– in the case of clinicians and pathologists, be included in the panels of experts if desired

The global scientific goal of the panNENomics project is to provide an overview of the main molecular characteristics of these understudied diseases 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.