Children with retinoblastoma living longer

BOSTON — There have been major shifts in management of retinoblastoma in children, and children are living longer, David H. Abramson, MD, FACS, told colleagues at Macula 2015.

“Everyone in this room has more than one genetic disease that he or she will transmit to his children. Every single one of us. Some of those genetic diseases will kill our progeny,” Abramson said.

One shift in management is the availability of preimplantation genetic diagnosis, which has been used worldwide in “hundreds and hundreds of children” since 2003, he said. In preimplantation genetic diagnosis, a fertilized in vitro embryo that does not have the gene that would develop retinoblastoma is preselected for implantation.

Metastatic disease, too, is being cured.

“When I finished my fellowship, there was not one child in the United States who would survive metastatic retinoblastoma,” he said. “It was a death sentence.”

Even though treatment is intensive — high-dose chemotherapy, radiation and bone marrow transplantation, all with long-term consequences — these children are being reported to survive 20 to 25 years beyond diagnosis, he said.

In another advance, pineal trilateral retinoblastoma, which was in the past uniformly fatal, is now treatable.

“About a third of those children are now cured … up from 0%,” Abramson said.

Because a percentage of deaths in the United States are attributed to diagnostic radiation, CT scans are no longer ordered in cases of suspected retinoblastoma. Neither are MRI and external beam radiation.

“We know that dose matters and age matters; children, especially in the first year of life, are extremely sensitive to the harmful effects of radiation,” he said.

Multi-agent systemic chemotherapy, the alternative to radiation therapy, also has side effects — sometimes fatal — and is the subject of debate, he said.

Screening programs that save lives have been developed, he said.

Fewer enucleations are being done, largely due to the introduction of ophthalmic artery chemosurgery, which he called the best and only effective treatment for subretinal seeds.

“It allows you to save 90% of the eyes that are presently being enucleated worldwide. … No question about it,” Abramson said.Finally, the reintroduction of intravitreal chemotherapy, which is not a new therapy, has changed the management of vitreous seeds, he said.

“Precisely the things we could never treat before … the reason we took out eyes, is now the easiest to treat,” he said.

Disclosure: Abramson has no relevant financial disclosures.