Subsequent Malignant Neoplasms in Retinoblastoma Survivors

Abstract

Retinoblastoma (Rb) is a pediatric malignant eye tumor. Subsequent malignant neoplasms (SMNs) and trilateral Rb (TRb) are the leading cause of death in heritable Rb patients in developed countries. The high rate of SMNs in heritable Rb patients is attributed to the presence of a mutation in the RB1 tumor suppressor gene. In addition, Rb therapy choices also influence SMN incidence in this patient group. The incidence rates and age of occurrence for the most frequent SMNs and TRb will be discussed. In addition, the impact of genetic predisposition and Rb treatments on the development of SMNs will be evaluated. Furthermore, screening and other prevention methods will be reviewed.

Subsequent malignant neoplasms in the pediatric age in retinoblastoma survivors in Argentina

“…Higher incidence of subsequent malignant neoplasms (SMNs) among retinoblastoma survivors has been reported in the literature, [1][2][3][4][5][6][7][8][9] with studies published almost exclusively from high-income countries (HIC), where early diagnosis and tailored treatment led to an estimated retinoblastoma disease-free survival (DFS) at 5 years of more than 95%. 10 Hereditary retinoblastoma survivors from HIC have a cumulative incidence (CI) of SMNs reported as high as 51% at 60 years from diagnosis, 2 a risk that is magnified by the exposure to external beam radiation therapy (EBRT) and systemic chemotherapy.…”

The clinical diagnostic value of plasma miR-592 and miR-217-3p levels in retinoblastoma

“…Rb is a kind of ocular malignant tumour with a family genetic predisposition and mostly occurs in infants under 3 years old (28)(29)(30). The main clinical symptoms are intraocular hypertension, vitreous turbidity, corneal edema, intraconjunctival hyperemia and edema, and strabismus (31)(32)(33). In addition, Rb can cause intracranial and distant metastasis, which can easily cause the death of Rb patients, posing a great threat to the quality of life of patients and their offspring (34,35).…”

Treatment of Retinoblastoma: What Is the Latest and What Is the Future

“…The majority of retinoblastoma eyes worldwide at diagnosis have vitreous and sub-retinal seeding which is rarely controlled by systemic chemotherapy (2,10). Thus, local drug delivery is preferred to increase drug exposure in the eye while limiting the amount that reaches the bloodstream, which reduces systemic toxicity and risk of second malignancies being particularly important for children with germline mutations (29,30).…”