Pleuropneumoblastome, tumeur de Sertoli-Leydig et autres maladies associées au spectre des mutations de DICER1

The recent discovery of anomalies in the DICER1 gene allows relating it to a broad spectrum of diseases that can occur in families whose members carry a germline inactivating mutation. The majority of pediatric diseases representing this spectrum is malignant tumors with in the first place pleuropulmonary blastoma and Sertoli-Leydig tumors. But thyroid goiters or other benign pathologies are also frequently associated making this spectrum more complex. Therapeutic recommendations from European collaborative groups working currently on pediatric very rare tumors offer homogeneous guidelines, even if not totally consensual because of the rarity of these diseases and the weakness of strong scientific evidence. International collaboration through the inclusion of these patients in international databases of rare pediatric tumors should help to clarify these data in the future. The genetic counseling to families still remains difficult but will be more precise with the analysis extend of families harboring the mutation. Biological analyses mainly coming from North American registry try to analyze the specific role of the miRNA in these pathologies associated with DICER1 mutations hoping to better apprehend the precise biological mechanisms of the gene in tumor development. Authors updated recent news available around DICER1 anomalies based on the scientific data presented at the first international symposium of this pathology.