Natural History of Untreated Retinoblastoma

Abstract

Treatment abandonment is a leading cause of death in children with retinoblastoma worldwide. We studied children who abandoned treatment upfront at diagnosis to delineate the natural history of untreated retinoblastoma. Studied were children who received no treatment, diagnosed between 2007 and 2017 at 29 Chinese centers. Data were retrospectively collected from medical chart reviews and interviews with each patient’s family. During the study period, 44 children received no treatment after diagnosis of retinoblastoma. Clinical or radiologic evidence of orbital extension was available for 25 children, and radiologic evidence of systemic metastasis was available for 12 children. Median times from diagnosis of intraocular tumor to orbital disease was 13.7 months, orbital disease to metastasis was 2.6 months, and metastasis to death was 2.0 months. Children with brain metastasis had shorter survival than those with metastasis to other sites (median 1.0 vs. 3.1 months; p = 0.015). Overall, 36% of patients died within 12 months of diagnosis, 77% within 24 months, 95% within 36 months and 100% within 48 months. While multiple factors influence refusal of treatment, insights into the natural history of retinoblastoma derived from real-world evidence can inform clinicians and parents that retinoblastoma is life-threatening and encourage urgent treatment at diagnosis.

Tylectomy Safety in Salvage of Eyes with Retinoblastoma

“…In comparison, in the AHOPCA II multicenter study of Central American patients with unilateral retinoblastoma (International Retinoblastoma Staging System Stage I; eye enucleated, completely resected histologically), the 102 patients who received primary enucleation had a 5-year overall survival rate of 94% [ 27 ]. Furthermore, a Chinese multicenter study reported a 5-year overall survival rate for unilateral and bilateral children treated with primary enucleation of 90% and 87%, respectively [ 15 ]. Primary enucleation is generally considered the safest treatment modality for retinoblastoma.…”

“…Families who cannot afford successive sessions of chemotherapy or extended follow-up may also elect for tylectomy. Although loss to follow-up post-surgery is suboptimal, it may achieve a better outcome than upfront treatment abandonment with 100% mortality [ 15 ].…”

Retinoblastoma Survival Following Primary Enucleation by AJCC Staging

“…Enucleation of the diseased eye to prevent tumor metastasis is commonly used for advanced intraocular disease with poor potential for vision, especially when the other eye is normal. While enucleation is life-saving, parental refusal to allow removal of the dangerous eye remains a leading cause of death in developing countries [ 2 ]. In the retinoblastoma centers reporting in this study, the most common indication for primary enucleation was advanced retinoblastoma with poor visual prognosis and a functional contralateral eye.…”

“…Retinoblastoma, the most common primary malignant intraocular tumor in children, affects 1 in 16,000 to 18,000 live births [ 1 ]. Untreated, intraocular retinoblastoma is universally fatal with orbit, brain, and distant metastases [ 2 ]. The primary goal of retinoblastoma treatment is saving life, while secondary goals are preservation of eye and vision without compromising safety.…”

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

“…In children, retinoblastoma (Rb) is a relatively common human genetic malignant ocular tumour (1)(2)(3)(4). It has the characteristics of high incidence, and low survival rate usually occurs in children under 3 years old and can affect one or both two eyes and seriously affect the health of children (5)(6)(7).…”