Retinoblastoma management in 13q deletion syndrome patients using super‐selective chemotherapies and other cancer‐directed interventions

Abstract

Background This study aimed to identify best practices for treating 13q deletion syndrome (13q−) patients with retinoblastoma in the era of super‐selective ophthalmic artery chemosurgery (OAC) and intravitreal injection therapy (IVIT). Methods Retrospective study of 21 eyes from 14 patients with retinoblastoma and 13q− who were treated at Memorial Sloan Kettering Cancer Center (MSKCC) between May 2006 and May 2020, with a mean follow up of 3.7 years. Ocular survival, patient survival, and treatment toxicities were assessed. Results Nine of the 12 eyes that underwent OAC/IVIT at MSKCC have been progression free for at least 1 year since their last treatments. Fifteen out of 26 OAC cycles resulted in grade 3‐4 hematologic toxicity. There was one death from sepsis in the setting of intravenous chemotherapy (IVC) for metastatic disease that occurred after OAC/IVIT therapy. The 2‐year Kaplan‐Meier ocular survival estimate for the whole cohort was 75% and for the eyes that received OAC or IVIT at MSKCC 83%. For OAC hematologic toxicities, one platelet transfusion and two filgrastim doses were administered, and one patient was hospitalized for neutropenic fevers. Conclusions The majority of 13q− eyes treated with OAC/IVIT‐based regimens can be cured, and there were no deaths related to complications from OAC or IVIT. 13q− Patients did have increased risk of systemic treatment complications, even from super‐selective chemotherapies. Despite these toxicities, only one patient developed febrile neutropenia, one patient required a blood product transfusion, and two patients received filgrastim for both OAC and IVC complications. Précis Children with 13q deletion syndrome with retinoblastoma managed with intra‐arterial and intravitreal chemotherapy have excellent patient and ocular survival with acceptable toxicity.

Features of molecular genetic diagnosis of retinoblastoma

“…Замечено, что у пациентов с РБ и делецией 13qчасто требуется снижение доз химиотерапевтических препаратов, так как может развиться гематологическая токсичность (выраженная нейтропения) [27,28].…”