Funded by the Dick Vitale Gala
The advent of molecular biology and molecular profiling in clinical medicine has transformed our understanding of childhood leukemia. As a result, we are now empowered to shift away from the classification of hematologic malignancy based on microscopic appearance towards a new paradigm of diagnosis and treatment focused on specific molecular mechanisms of pathogenesis, or alterations detected in both leukemia cells and cells representing an individual’s heritable constitution. The heritable, constitutional or germ-line contribution to the development of childhood leukemia is a phenomenon increasingly recognized in childhood cancer. Studies to date have revealed the constitutional basis for cancers in subtypes of leukemia, however there is a clear missing heritability fraction given a high frequency of families without an identifiable genetic etiology. Given a lack of awareness and an incomplete germline evaluation, pediatric oncologists are unable to take avail of complete information pertaining to a child’s predisposition to developing leukemia when planning therapeutics and guiding. Knowledge of germ line alterations may direct patient care, and enable genetic counseling for patients and their families. My research focuses on identifying the heritable underpinnings of childhood leukemia.