2023-09-08 08:05:22
Due to its location, retinoblastoma poses different clinical challenges, from diagnosis to treatment. Recently, a researcher at Children’s Hospital Los Angeles developed a new way to diagnose retinoblastoma by taking a small amount of fluid from the front of the eye. The principle of a liquid biopsy which theoretically makes it possible to obtain genetic and chromosomal information and therefore a personalized image of the disease of each child could then, for the first time, be considered for this eye cancer.
The lead author, Dr. Jesse Berry, director of the Ocular Oncology Department at CHLA, has been searching for a better way to diagnose retinoblastoma for a long time. The cancer, which affects the light-sensitive layer at the back of the eye, is extremely aggressive and can lead to the loss of 1 or both eyes if not treated promptly. But its rapid treatment depends on the precocity and precision of its diagnosis.
Cancers are diagnosed by a biopsy or the removal of tumor cells and their analysis to determine the type of cancer. This is not possible for retinoblastoma, as for other tumors, brain for example or cancers of the bone marrow or blood. In this case, this layer resembles thick liquid, and it is difficult to access it physically.
In the case of retinoblastoma, direct biopsy of the tumor may do more harm than good,
and cause the spread of cancer cells.
Not only does this make cancer diagnosis difficult, it prevents any study of cancer cells, a process necessary to understand the disease and advance treatments.
Analysis of aqueous humor, the fluid present inside the eye itself, could be the solution. But the whole question, as with any liquid biopsy, is being able to detect the information that clinicians need to diagnose retinoblastoma. Scientists argue that a tiny amount of fluid – 100 microlitres, about half the size of a pea – could be “a wealth of information” about genetic mutations or chromosomal aberrations. Thus, this form of liquid biopsy would make it possible to diagnose retinoblastoma at the molecular level and provide oncologists with a very precise map of each child’s disease.
Specific factors clearly appear on the biopsy: the analysis of first samples from a few patients with CHLA indeed reveals it is possible to detect this information, however it is necessary to work on a much larger data set. This is why the team will launch an international study, with the support of the NIH. The study will involve samples from 18 centers, including the largest retinoblastoma center located in Canada. All material will be processed and studied at Children’s Hospital Los Angeles. The children will be followed for at least 2 years, so that researchers can
also monitor the risk of cancer recurrence, this type of tumor reappearing in approximately 50% of affected patients.
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