[Sportschosun Reporter Jang Jong-ho] Researchers have found a clue that could make it possible to predict the risk of metastasis in uveal melanoma, a cancer that develops inside the eye, more accurately.
A research team led by ophthalmology professors Lee Seung-gyu and Kim Yong-joon at Severance Eye Hospital, together with Professor Joo Young-seok and Dr. Nam Chang-hyun at the Graduate School of Medical Science and Engineering at KAIST, said on the 14th that they analyzed the genomes of uveal melanoma patients and identified key changes linked to metastasis.
Uveal melanoma is the most common eye tumor in adults. Once it spreads, treatment becomes difficult and the prognosis is poor. Metastasis risk is currently predicted using certain chromosomes, but even among patients in the same high-risk group, outcomes can differ. That is why a more precise method is needed.
The team analyzed whole cancer genomes from 40 patients diagnosed with uveal melanoma at Severance Hospital and examined genomic changes associated with metastasis.
The analysis showed that abnormalities in a gene called BAP1 were strongly associated with metastasis. BAP1 abnormalities were found in 83% of patients who developed metastasis, but in only 14% of those who did not.
The researchers obtained the same result when they validated the findings using data from 75 patients registered with the International Cancer Genome Consortium.
They also found that an increase in part of chromosome 1 was linked to metastasis risk. This change was seen in 58% of patients with metastasis and 18% of those without it.
Based on these two changes, the team proposed a new classification system to divide the metastasis risk of uveal melanoma patients. When the new system was applied, no metastasis was found in the lowest-risk group, while the metastasis rates were 6% in the intermediate-risk group, 50% in the high-risk group, and 100% in the highest-risk group.
The team also conducted an analysis to estimate when the cancer first began. The results suggested that the major chromosome changes associated with uveal melanoma may have already occurred in the early 20s on average. This means the changes linked to metastasis may have started, on average, 30 to 40 years before the cancer was actually diagnosed.
The study shows that the risk of metastasis in uveal melanoma may be determined at a much earlier stage than the time of cancer diagnosis. It is expected to help identify high-risk patients earlier and support personalized testing and treatment plans.
In particular, most previous studies on uveal melanoma have focused on Western populations, so this research is expected to provide important evidence for understanding the characteristics of uveal melanoma in Asians.
Professor Lee Seung-gyu said, "Uveal melanoma is difficult to treat once metastasis occurs, so it is important to identify high-risk patients early," adding, "This study confirmed that combining gene abnormalities and chromosome changes can predict metastasis risk more accurately than before."
Professor Kim Yong-joon said, "We confirmed that changes related to uveal melanoma can begin decades before a cancer diagnosis," and added, "We hope this will help in preselecting high-risk patients and establishing personalized follow-up and treatment strategies."
The findings were published in the latest issue of the international journal Experimental & Molecular Medicine (IF 17.5).
Reporter Jang Jong-ho, bellho@sportschosun.com
This article has been translated by GripLabs Mingo AI.
