Question

A child presenting with whitish pupillary reflex was treated with enucleation. Histopathology of the specimen showed Flexner-Wintersteiner rosettes. What is the diagnosis?

• A. Retinoblastoma
• B. Rhabdomyosarcoma
• C. Medulloblastoma
• D. Astrocytoma

Hint:

Flexner-Wintersteiner rosettes are pathognomonic for the most common intraocular tumour of childhood.

Answer 1

The Correct Option is A

Step 1: Recognise the clinical presentation.
A whitish pupillary reflex is called leukocoria (white pupil). Leukocoria in a child is the most common presenting sign of retinoblastoma. Other presenting signs include strabismus, painful blind eye, and loss of vision.

Step 2: Understand Flexner-Wintersteiner rosettes.
On histopathology, retinoblastoma shows tumour cells arranged around a central lumen lined by a limiting membrane, forming structures called Flexner-Wintersteiner (FW) rosettes. These rosettes represent attempts at photoreceptor differentiation and are pathognomonic of retinoblastoma. Poorly differentiated retinoblastomas (<50% differentiation) tend to show FW rosettes, while well-differentiated tumours (>50% differentiation) show Homer-Wright rosettes.

Step 3: Epidemiology and genetics.
Retinoblastoma is the most common intraocular malignancy of childhood, accounting for about 3% of all paediatric cancers. It is caused by inactivation of the RB1 tumour suppressor gene on chromosome 13q14. It can be heritable (bilateral, earlier onset) or sporadic (usually unilateral).

Conclusion: The correct answer is Retinoblastoma.