Clinical Features and Long-term Prognosis of Retinoblastoma according to Age at Diagnosis

Abstract

We aimed to study the clinical characteristics and long-term prognoses of retinoblastoma according to the age at diagnosis. Methods: A retrospective chart review of non-screened patients newly diagnosed with retinoblastoma between January 2007 and February 2018. Results: Among the 20 patients analyzed, 11 were diagnosed at an age younger than 1 year (group 1) and nine at 1 year or older (group 2). The mean lag times until diagnosis were 1.0 ± 0.4 and 5.0 ± 2.1 months for groups 1 and 2, respectively (p = 0.056). The mean follow-up durations were 49.4 ± 12.7 and 58.3 ± 8.8 months, respectively (p = 0.412). Group 1 had a significantly higher proportion of bilateral retinoblastoma than did group 2 (72.7% vs. 11.1%, p = 0.010). Four of five patients (80.0%) with germline RB1 mutations were diagnosed with retinoblastoma at age 3 months or younger. The eyes of patients in group 2 had significantly higher International Intraocular Retinoblastoma Classification stages than did those of patients in group 1 (p for trend = 0.010). The proportion of eyes with optic nerve invasion and those that had undergone enucleation were significantly higher in group 2 (p = 0.033 and 0.046, respectively). Survival did not differ according to the age at diagnosis. Conclusions: Early onset retinoblastoma does not seem to indicate poor ocular or survival prognosis in Korean children with retinoblastoma.

Comprehensive Somatic Copy Number Analysis Using Aqueous Humor Liquid Biopsy for Retinoblastoma

“…More advanced (IIRC Groups D and E) [30] eyes and eyes diagnosed at older ages tended to have more SCNAs than less advanced eyes and those diagnosed at younger ages. Accordingly, increased age at diagnosis has previously been associated with development of more advanced disease [54]. Although prior studies have reported relationships between chromosomal instability and laterality as well as heritability [6,16,33,55], we postulate that the differences in age at diagnosis, even when controlling for Group classification and heritability, remain the driving factor.…”

Retinoblastoma management: a systematic review

“…The mortality of these patients increases when the patient abandons the treatment due to the little collaboration of the pediatric patient, the parents not being aware of the risks of the disease and above all the socioeconomic factor. It has been shown that in countries with higher incomes, malignant neoplasms are considered the highest mortality, while in countries with medium and low incomes, the highest mortality is due to extraocular retinoblastoma or metastasis, since it is legally easier to abandon treatment in comparison with the rest of the countries (18,19). In developed countries there is an incidence of 2.2-6.2 cases per million inhabitants with a survival rate of 95%, and in less developed countries this incidence increases to 24.5 per million inhabitants with the 10-30% survival rate (17,20).…”