An update on mesenchymal tumours of the orbit with an emphasis on the value of molecular/cytogenetic testing

Saudi Journal of Ophthalmology : Official Journal of the Saudi Ophthalmological Society
F Roberts, E M MacDuff

Abstract

Mesenchymal tumours of the orbit are uncommon. Beyond childhood primary sarcomas are extremely rare and the literature is limited to case reports and short case series. However there is a diverse assortment of benign and malignant soft tissue tumours that may involve the orbit. Techniques to identify tumour specific cytogenetic or molecular genetic abnormalities often resulting in over- expressed proteins are becoming an increasingly important ancillary technique for these tumours. This review focuses on 3 specific areas: 1. Orbital mesenchymal tumours where cytogenetics are important to reach the correct diagnosis. The majority of these are chromosomal translocations that often result in a fusion gene and protein product; 2. Orbital mesenchymal tumours where cytogenetics are important to identify patients who will do well versus those with a poorer prognosis. This is turn helps with therapeutic options. In some tumours e.g. synovial sarcoma the chromosomal translocations can occur with 2 different regions resulting in different fusion products that carry a different prognosis. Alternatively whilst the majority of alveolar rhadomyosarcomas are fusion positive a minority are fusion negative with a better prognosis; 3. Orbital me...Continue Reading

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Citations

May 31, 2019·Seminars in Ophthalmology·Paula Cortes BarrantesThaddeus P Dryja
May 15, 2018·Saudi Journal of Ophthalmology : Official Journal of the Saudi Ophthalmological Society·J G Heathcote

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