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The pathology of ocular cancer.

ABSTRACT: Primary cancers of the eye are rare. These include uveal melanoma, a tumor that preferentially affects the choroid of light-eyed, fair-skinned Europeans, and the pediatric retinal neoplasm retinoblastoma, which is slightly more common worldwide. Uveal melanoma kills about half of affected patients. Most succumb to hepatic metastases, which are unresponsive to current therapy. Factors indicative of poor prognosis include tumor size, ciliary body involvement, epithelioid cells, extraocular extension, lymphocytic and melanophagic infiltration, mitotic activity, vascular mimicry patterns, and most importantly, the detection of monosomy 3 and class 2 gene expression profile in tumor cells using special tests. Most retinoblastomas are caused by sporadic somatic mutations in the RB1 gene, but about one-third arise in infants with germline mutations. The latter tend to develop earlier, are often bilateral and are transmissible to offspring as an autosomal dominant trait. Retinoblastoma displays varying degrees of differentiation including Homer Wright and Flexner-Wintersteiner rosettes and photoreceptor differentiation (fleurettes). Rosettes are more common in eyes enucleated from very young infants. Tumors composed entirely of fleurettes (retinoma/retinocytoma) are thought to be retinoblastoma precursors, and like retinoblastoma, harbor mutations in both copies of the RB1 gene. Retinoblastoma is a major cancer treatment success story in developed countries where most deaths are caused by secondary tumors in germline mutation carriers. High-risk histopathological features that are an indication for adjuvant chemotherapy include massive uveal invasion and retrolaminar optic nerve invasion. Eye-sparing therapies including brachyradiotherapy and systemic and intra-arterial chemotherapy have reduced the number of eyes with retinoblastoma requiring enucleation in recent years.

SUBMITTER: Eagle RC

PROVIDER: S-EPMC3574240 | biostudies-other | 2013 Feb

REPOSITORIES: biostudies-other

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Project description:ImportanceRed reflex testing is a simple and inexpensive method implemented in many countries as an important part of infant screening for ocular pathologies.ObjectivesTo review the literature on the diagnostic accuracy of the red reflex test in infant screening for ocular pathologies and to perform meta-analyses to provide summary estimates.Data sourcesThe following literature databases were searched for English-language, peer-reviewed literature, published until April 19, 2020: Cochrane Central, PubMed/MEDLINE, Embase, Web of Science Core Collection, BIOSIS Previews, Current Contents Connect, Data Citation Index, Derwent Innovations Index, KCI-Korean Journal Database, Russian Science Citation Index, SciELO Citation Index, CINAHL (Cumulative Index to Nursing and Allied Health Literature), and ClinicalTrials.gov.Study selectionEligibility criteria were defined according to population (studies of consecutively screened infants), exposure (red reflex or Brückner test as the index test), comparator (any ophthalmological examination), and study type (any study with diagnostic test accuracy data).Data extraction and synthesisThe Preferred Reporting Items for Systematic Reviews and Meta-Analysis of Diagnostic Test Accuracy Studies (PRISMA-DTA) guidelines were followed. Data were extracted independently by 2 authors. For summary estimates of diagnostic test accuracy, the hierarchical summary receiver operating characteristics curve was used. Prevalence of ocular pathologies was introduced for a prevalence meta-analysis, which was then used in calculations of diagnostic accuracy of the red reflex test when applied in infant screening.Main outcomes and measuresTrue-positive, false-positive, true-negative, and false-negative findings; sensitivity; specificity; and positive and negative predictive values.ResultsIn this meta-analysis, 8713 unique infants from 5 unique studies were eligible for qualitative and quantitative review. All studies used the red reflex test without pupillary dilation and were compared with a reference test performed with pupillary dilation. For any ocular pathology, an estimated sensitivity of 7.5% (95% CI, 7.4%-7.5%) and specificity of 97.5% (95% CI, 97.5%-97.5%) was found. Focusing on ocular pathologies that required a medical or surgical intervention, sensitivity improved to 17.5% (95% CI, 0.8%-84.8%) and specificity remained high at 97.6% (95% CI, 87.7%-99.6%).Conclusions and relevanceThese findings suggest that an abnormal red reflex finding most likely reflects an underlying ocular pathology. However, a normal red reflex finding during screening does not exclude ocular disease.

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The pathology of ocular cancer.

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