Germline mutation risk with solitary unilateral blastoma may be higher in younger children
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NEW ORLEANS — Older age at presentation may be associated with a significantly decreased risk for germline mutation in children with solitary unilateral retinoblastoma, according to a presenter here.
“It’s important to know the germline status because the patient is at risk for multiple bilateral retinoblastomas as well as pineoblastoma and second cancers, and these can lead to blindness and death,” Carol L. Shields, MD, said at the American Academy of Ophthalmology meeting. “We reviewed 482 consecutive patients who presented with one tumor in one eye and were later found to have likely germline retinoblastoma.”
Shields and colleagues analyzed the likelihood of germline retinoblastoma in pediatric patients presenting with solitary unilateral retinoblastoma in a retrospective case study. Likelihood was defined as family history of retinoblastoma, germline retinoblastoma mutation documented on genetic testing, or the development of bilateral disease or additional new tumors.
A comparative analysis was performed on children who presented at 0 to 1 years, 1 to 2 years, 2 to 3 years, and older than 3 years. A substudy was also performed on infants 12 months or younger (0 to 3 months, 3 to 6 months, 6 to 9 months and 9 to 12 months).
“It’s clear that the youngest children with solitary unilateral retinoblastoma are at the greatest risk for germline mutation,” Shields said.
Patients who presented at 1 year or younger had a greater likelihood of germline retinoblastoma as compared with children older than 1 year. Germline mutation was found in 29% of children who presented between the ages of 0 to 1 years, 17% of children who presented at 1 to 2 years, 8% of children who presented at 2 to 3 years and 9% of children older than 3 years (P = .001).
In infants, 61% who presented at 0 to 3 months had germline mutation compared with 20% of infants 3 to 6 months, 24% of infants 6 to 9 months and 22% of infants 9 to 12 months (P = .009).
“We found significant decreasing risk for germline mutation with greater patient age at presentation,” Shields said.
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Shields CL, et al. Likelihood of germline mutation with solitary unilateral retinoblastoma based on patient age at presentation: A real-world analysis of 482 consecutive patients. Presented at: American Academy of Ophthalmology meeting; Nov. 12-15, 2021; New Orleans.
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