How Retinoblastoma Is A Form Of Cancer

1589 Words Nov 10th, 2014 7 Pages
Retinoblastoma is a form of cancer found in young children, which develops from cells of the retina, the tissue of the eye that detects light. It arises from a mutation, either a point mutation or complete deletion of both of the Rb tumour suppressor genes within a cell, and can be a result of inherited or sporadic genetic default. Loss or defect of this region on chromosome 13 means cells can proliferate uncontrollably, leading to tumour formation that not only affects the eye but can spread to the brain or cause metastases in bone, soft tissue and the central nervous system via haematogenous spread. The invasive treatment of large tumours can cause major consequences for sufferers; for example enucleation leads to loss of vision and radiotherapy can increase a child’s chances of developing second metastases.


Retinoblastoma is a rare malignant cancer of infancy and early childhood, where tumours develop in the cells of the retina, the light sensitive lining of the eye (1) (see figure 1). The cancer develops due to the loss or mutation of both of the Rb genes within a retinal cell and can be inherited or sporadic. With the inherited form, sufferers have a germline mutation of the Rb gene, making most cases bilateral, but with the sporadic form the first ‘hit’ occurs randomly in a retinal cell, hence the majority of cases are unilateral. The number of infants diagnosed with retinoblastoma has doubled over the past forty years (2) with the disease now being…
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