Delayed Diagnosis of Retinoblastoma: Analysis of Degree, Cause, and Potential Consequences

Butros, Linda; Abramson, David H.; Dunkel, Ira J.

doi:10.1542/peds.109.3.e45

Cited by 92 publications

(87 citation statements)

References 12 publications

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“…In developed countries, strabismus is the second most common clinical manifestation in Rb patients, followed by leukocoria (17,18). However, in our study, we found that strabismus occurred in only 4.1% of Rb patients.…”

Section: Discussioncontrasting

confidence: 75%

“…Orbital invasion rarely occurs in Rb patients in developed and developing countries (11,18), but it is the most common symptom of Rb patients in less developed countries (22)(23)(24). Although patients with orbital invasion accounted for only 4.8% of all Rb patients in our study, their death rate accounted for 21.1% of Rb patients, with a survival rate of only 17.8%.…”

Section: Discussionmentioning

confidence: 99%

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Clinical characteristics and prognosis of patients with retinoblastoma: 8-year follow-up

Luo¹,

Ye²,

Ding³

et al. 2015

Turk J Med Sci

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IntroductionRetinoblastoma (Rb) is the most common intraocular malignant tumor in children, accounting for approximately 3%-4% of all malignant tumors in children aged 0-14 years (1,2). Currently, in developed countries with advanced tools for medical diagnosis, Rb can be detected early, thus leading to an improved survival rate of more than 95% for this high-mortality disease. However, the survival rate from this disease is still as low as approximately 50% worldwide (3). This may be due to the poor diagnostic and therapeutic capacity, as well as generally poor health conditions, experienced in low-income countries. This leads to late diagnosis of the disease and thus a high incidence of extraocular complications and a high risk of distant metastasis (4). Rb can be cured if the disease is diagnosed early, if disease severity is appropriately assessed, and if proper treatments are applied (5). Therefore, this study aimed to identify clinical characteristics of Rb patients, to find the potential relationship between clinical manifestations and survival rates from Rb, and to provide a clinical basis for prediction of disease outcomes and treatment options. Materials and methods Clinical dataThis retrospective study with complete follow-up data included 314 patients who were diagnosed as having Rb at the Zhongshan Ophthalmic Center at Sun Yat-sen University from January 2003 to February 2011. Clinical data, including laterality of eyes, sex, age at diagnosis, presenting signs, lag time before treatment, survival conditions, and survival time, were recorded. Patients were followed until death or the cutoff date (February 2013), whichever occurred first. The mean follow-up time was 41.4 ± 27.9 months (median, 33 months; range, 1-110 months).Patients' clinical presentations at diagnosis were categorized into 6 groups based on the description given by the patients or their families: 1) leukocoria (white reflection from the pupil); 2) strabismus; 3) inflammation Background/aim: The aim of this study was to investigate the potential correlation between clinical characteristics and prognosis of patients with retinoblastoma (Rb). Materials and methods:This retrospective study included 314 Rb patients. Clinical data including laterality of eyes, sex, age, presenting signs, lag time, and survival were recorded and analyzed.Results: Leukocoria is the most common clinical presentation of Rb. Patients with isolated leukocoria had shorter lag time and exhibited a high survival rate (85%, 5 years). Patients with strabismus and blurred vision, and who were older and had longer lag time, exhibited an excellent survival rate (100% and 92.3%, respectively, 5 years). Patients with exophthalmos had the longest lag time and the lowest survival rate (17.8%, 5 years). The 5-year survival rate of patients with a lag time of ≤6 months was 84.7%, which was significantly higher than that of patients with a lag time of >6 months (64.7%). Conclusion:Leukocoria, strabismus, and blurred vision are mild clinical manifestations of Rb that are associ...

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Section: Discussioncontrasting

confidence: 75%

Section: Discussionmentioning

confidence: 99%

Clinical characteristics and prognosis of patients with retinoblastoma: 8-year follow-up

Luo¹,

Ye²,

Ding³

et al. 2015

Turk J Med Sci

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“…While the average age of presentation in literature is 24 months for unilateral diseases and 9 -12 months for bilateral diseases [28], in our study it was 26.25 months for unilateral cases and 33.8 months for bilateral cases.…”

Section: Discussioncontrasting

confidence: 60%

Multi-drug Resistant Proteins Expression in Retinoblastoma in Primary Enucleated Eyes Versus Eyes Enucleated after Failure of Conservative Treatment

Salam¹,

Ismail²,

Ziko³

et al. 2017

J Clin Exp Ophthalmol

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Objective: To compare expression of Multidrug-resistant protein 1/P-glycoprotein (MDR1/Pgp) in retinoblastoma in eyes treated by primary enucleation due to advanced tumor at initial presentation and those enucleated after being resistant to chemotherapy. Design and methods:A prospective non randomized masked analysis of pathology specimens obtained from twenty retinoblastoma patients presenting at the retinoblastoma clinic at ophthalmology department, Ain Shams University Hospitals. Specimens from patients who had enucleation were divided into 2 groups. Patients in group 1 underwent primary enucleation due to advanced tumor at presentation. Patients in group 2 underwent secondary enucleation after failure of conservative treatment. Immuno histochemical studies were performed searching for expression of Multidrug-resistant protein 1/P-glycoprotein (MDR1/ Pgp) in the two groups. Patient demographic and eye examination data we collected and reviewed.Results: Analysis of the primary enucleation group showed high positive, low positive and negative expression in 1 (10%), 2 (20%) and 6 cases (70%) respectively. In secondary enucleation group 5 cases (50%), 3 cases (30%) and 2 cases (20%) showed high positive, low positive and negative expression respectively. Conclusion:This pilot study though, not being able to demonstrate statistical significance in MDR1 expression in primary enucleated vs. secondary enucleated resistant cases, demonstrated p value low enough to indicate a trend for more MDR1 expression in resistant cases (p=0.068). Further study with a larger sample size is warranted.

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“…Bilateral RB typically presents earlier than unilateral RB, with a median age of diagnosis of approximately 10 months compared with 24 months, respectively (8,9).…”

Section: Hereditary Rb: Introductionmentioning

confidence: 99%

Retinoblastoma and Neuroblastoma Predisposition and Surveillance

Kamihara

Bourdeaut

Foulkes

et al. 2017

Clinical Cancer Research

175

137

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Retinoblastoma (RB) is the most common intraocular malignancy in childhood. Approximately 40% of retinoblastomas are hereditary and due to germline mutations in the RB1 gene. Children with hereditary RB are also at risk for developing a midline intracranial tumor, most commonly pineoblastoma. We recommend intensive ocular screening for patients with germline RB1 mutations for retinoblastoma as well as neuroimaging for pineoblastoma surveillance. There is an approximately 20% risk of developing second primary cancers among individuals with hereditary RB, higher among those who received radiotherapy for their primary RB tumors. However, there is not yet a clear consensus on what, if any, screening protocol would be most appropriate and effective. Neuroblastoma (NB), an embryonal tumor of the sympathetic nervous system, accounts for 15% of pediatric cancer deaths. Prior studies suggest that about 2% of patients with NB have an underlying genetic predisposition that may have contributed to the development of NB. Germline mutations in ALK and PHOX2B account for most familial NB cases. However, other cancer predisposition syndromes, such as Li-Fraumeni syndrome, RASopathies, and others, may be associated with an increased risk for NB. No established protocols for NB surveillance currently exist. Here, we describe consensus recommendations on hereditary RB and NB from the AACR Childhood Cancer Predisposition Workshop.

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Delayed Diagnosis of Retinoblastoma: Analysis of Degree, Cause, and Potential Consequences

Cited by 92 publications

References 12 publications

Clinical characteristics and prognosis of patients with retinoblastoma: 8-year follow-up

Clinical characteristics and prognosis of patients with retinoblastoma: 8-year follow-up

Multi-drug Resistant Proteins Expression in Retinoblastoma in Primary Enucleated Eyes Versus Eyes Enucleated after Failure of Conservative Treatment

Retinoblastoma and Neuroblastoma Predisposition and Surveillance

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