Rare Tumors: Pathology and Biology Perspectives

Abstract

The study of pediatric rare tumors is complicated at many levels. Accurate pathologic identification is essential, yet pediatric expertise is limited. For success, various collaborations are crucial. First, surgeons and pathologists must coordinate their efforts prior to surgery to ensure that sufficient material is obtained and that material is handled appropriately. Second, pathologists must be willing to consult others who may have more expertise. Two examples are a central review team (as developed in pediatric oncology groups) or pathologists with specific skills in adult tumors. Biological studies are also crucial to success in the study of rare pediatric tumors. As the whole-genome project moves forward, clinicians and investigators must be prepared to apply new information and molecular analysis methods to further understand the etiopathogenesis of those tumors. Two successful examples of molecular characterization in pediatrics: the pleurapulmonary blastoma family of diseases (Hill et al. 2009) and midline ­carcinoma with NUTT gene rearrangement (French et al. 2004). Further progress will be hampered if we do not establish a clear strategy to collect and store precious rare tumor material for future study. In addition, biological data must be fully integrated with data from clinical registries to fully enhance studies on rare pediatric tumors.