Cancer predisposition disorders specifically Beckwith-Wiedemann spectrum (BWS), a genetic and epigenetic overgrowth syndrome, are challenging to diagnose and manage. One of the key components to patient outcome is adequate cancer screening protocols. The major barrier to screening protocol development is the uniformity of data collection and presentation such that evidence-based guidelines can be developed. Therefore, my goal was to thoroughly investigate the age of diagnosis of Wilms tumor (WT) in patients with BWS in order to refine WT screening guidelines. Using the only active BWS registry, which is at the Children’s Hospital of Philadelphia, I looked at data from enrolled patients who have had WT to investigate age of diagnosis, molecular subtype, histology of tumor, focality of tumor, and treatment plan. I also completed a comprehensive literature search, looking for the same clinical information in reported BWS cases. In doing so, I was able to see clear trends in WT development in BWS compared to WT development in the general population, which has led my team to make recommendations for amending the current screening protocols.
In addition to my research project this summer, I was privileged to help plan and host the international Deciphering Beckwith-Wiedemann Spectrum conference for medical professionals and families with children with BWS. Meeting families and playing with children with BWS was most meaningful because I witnessed the applications and implantation of my research.
This summer was my first opportunity to pursue an independent research project. Through this experience I learned the innerworkings of clinical research from the initial stages of formulating a question that addresses a gap in medical knowledge through submitting my work for publication in a peer reviewed journal. By participating in this project, I gained valuable research experience and skills that have prompted me to continue clinical research of BWS in the fall and in my future medical career. I believe this experience has enabled me to become a stronger critical thinker and more knowledgeable about the vast and important impacts of clinical research on direct patient care.
I would like to thank my mentor Dr. Jennifer Kalish and the entire BWS research team at CHOP as well as CURF for enabling me to learn and develop my investigative skills this summer.