Scientists have created a model of the rare pediatric eye cancer that more closely mimics the biology of patient tumors.

Retinoblastoma occurs in very young children, and in some cases children are born with the disease. Inherited mutations in RB1 are one reason why this happens, but how these tumors form and what other factors underlie their development remains difficult to study.

Retinoblastoma is also unusual because it is one of the only types of cancer that is not diagnosed by taking a biopsy of a tissue sample. This is because the process might help the tumor cells spread outside of the eye. That means the tumor samples researchers have access to are from cancers that progressed beyond their earliest stages, requiring eye removal.

«What we have developed with these retinoblastoma organoids is, for the first time ever, a laboratory model where it’s possible to study the processes that go on when retinoblastoma is starting to form,» said co-corresponding author Michael Dyer, Ph.D., St. Jude Department of Developmental Neurobiology chair. «We can follow the process from the beginning to the early stages of tumor development, which is really exciting and opens up new avenues for research.»

The need for a new model

Models provide a way for scientists to study disease in the lab, both its biologic underpinnings as well as the way it responds to potential therapies. Creating models that reflect the reality of disease in human patients is a tremendous challenge. For rare diseases such as retinoblastoma, there are additional hurdles due to the limited number of patients. Retinoblastoma models, including cell lines, genetically engineered mouse models and patient-derived xenografts, have been useful for research. However, these models have also fallen short of replicating the disease as it occurs in patients.

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Materials provided by St. Jude Children’s Research Hospital. Note: Content may be edited for style and length.