D. Ashley Hill, M.D.

DEPARTMENT OF Pathology & Immunology
Keywords:

I am interested in the pathology and biology of pediatric embryonal cancers. I am currently studying patients with pleuropulmonary blastoma (PPB) tumor predisposition syndrome in collaboration with the International Pleuropulmonary Blastoma Registry and the Hereditary Cancer and Multiplexed Gene Analysis Cores of the Siteman Cancer Center. PPB is a malignant mesenchymal tumor of the lung affecting young children. 84% of patients with PPB present with the solid, aggressive form of the disease. Fewer than half of these patients survive. Some patients with PPB appear to be part of a familial cancer syndrome that provides a unique model for studying the genetic basis of the disease. Although PPB itself is rare, it appears to be related to the more common pediatric cancers embryonal rhabdomyosarcoma (ERMS) and Wilms tumor (WT), having morphologic and cytogenetic similarities as well as familial aggregation. Our long term goal is to identify the molecular basis of PPB. We believe that identifying the genetic factors responsible for causing PPB will provide insight into the etiology and biology of both PPB and PPB-related tumors ERMS and WT. Identification of the PPB gene can be translated into gene-based screening tests to identify family members at risk for PPB and related tumors. Screening guidelines could then be established for early cancer detection and could potentially lead to improved survival. The identification of genes and pathways may also prompt new approaches to therapy similar to the application of tyrosine kinase inhibitors in chronic myelogenous leukemia and gastrointestinal stromal tumor. Finally, because of the developmental nature of PPB and its associated neoplasms, we may learn about key processes related to early cell fate decisions in development and neoplasia.