Retinoblastoma other diagnostic studies

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Simrat Sarai, M.D. [2]

Overview

Other diagnostic studies for retinoblastoma include fluorescein angiography, bone marrow aspiration, lumbar puncture, bone scan, and genetic testing.

Other Diagnostic Studies

Fluorescein angiography

This imaging study can be used to differentiate retinoblastoma from other lesions.

• Fluorescein angiography is particularly helpful in differentiating the tumor from the advanced form of Coats’s disease.
• Imaging findings associated with the diagnosis of retinoblastoma include:
  • normal filling of enlarged dilated vessels entering a hyper- and hypofluorescent tumor mass
  • It stains and leaks depending on its size.

Bone marrow aspiration

Bone marrow aspiration is usually done only if the optic nerve contains cancer, which suggests that cancer may have spread outside the eye. It may also be done in patients who undergo enucleation and in whom the tumor is found at the cut section of the optic nerve.

Lumbar puncture

Lumbar puncture may be done if the optic nerve or a large portion of the choroid contains cancer, which suggests that there is a risk that cancer has spread outside the eye.

Bone scan

A bone scan is not used very often during the diagnosis and staging of retinoblastoma. It is usually only done if there is the reason to believe that cancer has spread outside the eye.

Genetic testing

Scientists have recently developed genetic tests to tell if there are changes to a gene (gene mutations). Gene testing involves looking at a person’s DNA. A test is done on blood or tissue to search for retinoblastoma 1 (RB1) gene mutations. Genetic testing may also be done in another family member, such as the child’s parents or siblings, especially if there is a family history of retinoblastoma or if the child is found to have a germline mutation. RB1 gene mutation happens in a parent’s egg or sperm before conception and is passed on to the child. The genetic testing does not guide ocular therapy, but the presence of a germinal mutation can be helpful for the screening of secondary cancers and family planning.

Biopsy/FNAC

Unlike most other cancers, which need a biopsy to confirm the diagnosis, retinoblastoma can usually be diagnosed by an eye examination and imaging. A biopsy is not needed in many cases because of risk of orbital seeding and metastasis.

References

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