This 3 year-old boy was in good health until his mother noticed a left white pupil (leukokoria) and took him to the clinic. The physical examination was unremarkable except for the leukokoria. The fundus could not be visualized. The pediatrician referred the child to an ophthalmologist.

Picture of the child:

1. What is leukokoria and in what conditions can it be seen?
The ophthalmologist aspirated fluid from the anterior chamber of the eye and sent it to the cytology laboratory for examination of cells.

Cytopathology report:​undifferentiated malignant cells
consistent with retinoblastoma

CT scan and MRI showed a massive filling the left globe and no evidence of involvement outside the globe.

The next day the patient was taken to surgery and the eye was removed. Sectioning the eye revealed a large tumor in the posterior chamber and retinal detachment. The tumor histologically was noted to be invading the optic nerve at the margin of section. Cytology of CSF fluid showed no malignant cells.
The patient was given local radiation and an eye prosthesis.
2. This is a small, round, blue cell tumor. List the other tumors of this nature and briefly define them? (including genetics).

3. Describe the pathology and natural history of a retinoblastoma.

4. Stage this tumor.

5. Predict the outcome of this case. How are these tumors treated?
6. What are the molecular genetics of this tumor and compare the molecular genetics of this tumor with cystic fibrosis and neuroblastoma.
7. Explain the double hit hypothesis.

A. Instructions. I will email you the ones with pictures to enable you answer the questions.

B. Use 2 pages for the case study.
C. Find two articles that support the diagnosis and summarize the two articles in one page.


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