Pleuropulmonary blastoma and DICER1-related tumor predisposition: from clinicopathologic observations to clinical trial.

Purpose of review: Pleuropulmonary blastoma (PPB) is a rare primary lung neoplasm of infancy and childhood. The purpose of this review is to highlight recent developments in our understanding of PPB and research strategies to facilitate future rare cancer research.

Recent findings: The International PPB/DICER1 Registry has recently assembled the largest-ever cohorts of type I and Ir PPB and type II and III PPB. These analyses were strengthened by robust histologic, genetic and longitudinal data made possible by systematic data collection and abstraction and dedicated central pathology review. These cohorts have laid the groundwork for a prospective consortium-based clinical trial to assess response to camptothecins in type II and III PPB and standardize the use of chemotherapy in type I PPB.

Summary: Significant strides in the study of PPB have been made through clinical, laboratory and translational research, multidisciplinary collaborations and the generous contributions of patients, families and referring physicians. Ongoing advancements will continue to depend on multidisciplinary, multiperspective global collaborations.