Chromothripsis Impact on Osteosarcoma Progression

By: Emily Gaw, (Arcadia High School)
Summary

Scientists have recently discovered a connection between osteosarcoma and chromothripsis. Osteosarcoma is a bone cancer that commonly occurs in adolescents and young adults and is caused by overproduction of osteoblasts (bone cells). Osteosarcoma’s genome is very unstable, and many chromosomes are prone to mutations. In this case, osteosarcoma can evolve quickly and become more resistant to therapy and treatment. An event referred to as chromothripsis is characterized by random shattering of chromosomes and error-prone misrepair. Fragments may be deleted, including important tumor suppressor genes. In an instant, chromothripsis could deal serious damage. It has the power to delete tumor suppressor genes while also amplifying oncogenes. With a high rate of approximately 74-77% of chromothripsis presence in osteosarcoma, it is shown that chromothripsis can have a drastic effect on osteosarcoma due to its chaotic genome. This may also be a reason why chromothripsis is such an important asset in developing osteosarcoma.

The clinical implications of chromothripsis in osteosarcoma are still being studied and are being improved for the future. Recently, chromothripsis has been used as a biomarker of aggressive disease and provides insight into the mechanisms of chemotherapy resistance. Although detection and modeling aren’t very straightforward opponents, technologies such as single-cell sequencing and CRISPR can potentially be used for future treatment options. The acknowledgement of chromothripsis helped reshape our understanding of osteosarcoma and helped lay the foundation for more personalized, individualized, and successful methods of care.


Chromothripsis comparison of one chromosome to two chromosomes.
(Figure representation created by the author:Emily Gaw)
Video Presentation

Impact Statement
Emily Gaw

Hi! My name is Emily Gaw. I am a student currently attending Arcadia High School. I've dreamed of becoming a doctor or scientist ever since I was young and always had a love for biology. It was a great first step in my career by participating in the Elio Academy program. During my time at Elio, I chose to research the connection between chromothripsis and osteosarcoma, and I ended up learning more than I imagined. In those two weeks, I was able to learn many valuable skills that are applicable to many future opportunities. For example, I learned to navigate the web like a scientific researcher, and use research tools to my advantage. After completing this program, I felt a sense of accomplishment and new confidence developing. I hope I can use this new found confidence to build up to advanced biomedical concepts and share them in countless ways. I now feel ready to commit to pursuing a career focused on biomedical research in cancer and cell biology.

By: Emily Gaw. The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of Elio Academy.


More Projects

More Blogs

Read further. Are you thinking about plans for next summer? Look our popular courses.