An update on mesenchymal tumours of the orbit with an emphasis on the value of molecular/cytogenetic testing |
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Authors: | F. Roberts E.M. MacDuff |
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Affiliation: | Department of Pathology, Queen Elizabeth University Hospital, Govan Road, Glasgow G51 4TF, United Kingdom |
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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 mesenchymal tumours where the identification of specific cytogenetic abnormalities has resulted in overexpression of specfic proteins which are diagnostically useful biomarkers for immunohistochemistry. |
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Keywords: | Cytogenetics Molecular genetics Mesenchymal tumour Soft tissue tumour Orbit |
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