Retinoblastoma other diagnostic studies: Difference between revisions
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==Overview== | ==Overview== | ||
Other diagnostic studies for retinoblastoma include wide-field fundus photography, spectral domain optical coherence tomography, fluorescein angiography and genetic testing. Biopsy, bone marrow aspiration, lumbar puncture and bone scan may be performed to detect metastases of retinoblastoma to outside the eye. | |||
==Other Diagnostic Studies== | ==Other Diagnostic Studies== | ||
===Wide-field fundus photography and spectral domain optical coherence tomography (sdOCT)=== | ===Wide-field fundus photography and spectral domain optical coherence tomography (sdOCT)=== | ||
On wide-field fundus photography and spectral domain optical coherence tomography, retinal tumors may be noted and documented relative to optic nerve and fovea. It may note the presence of exudative retinal detachment, vitreous and subretinal seeding. Spectral domain optical coherence tomography (sdOCT) notes normal or abnormal foveal contour and may be exquisitely sensitive to document marginal tumor recurrence | On wide-field fundus photography and spectral domain optical coherence tomography, retinal tumors may be noted and documented relative to optic nerve and fovea. It may note the presence of exudative retinal detachment, vitreous and subretinal seeding. Spectral domain optical coherence tomography (sdOCT) notes normal or abnormal foveal contour and may be exquisitely sensitive to document marginal tumor recurrence | ||
==Biopsy/FNAC== | ===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.<ref name="CCS"> Retinoblastoma. Canadian Cancer Society(2015) http://www.cancer.ca/en/cancer-information/cancer-type/retinoblastoma/diagnosis/?region=on Accessed on October 13 2015</ref> | |||
===Fluorescein angiography=== | |||
Fluorescein angiography is a special type of x-ray procedure used to look at blood vessels inside the eye. A special orange dye called fluorescein is used to make blood vessels in the eye visible. The dye is injected into the arm and travels to the blood vessels in the eye. A series of pictures are then taken to:<ref name="CCS"> Retinoblastoma. Canadian Cancer Society(2015) http://www.cancer.ca/en/cancer-information/cancer-type/retinoblastoma/diagnosis/?region=on Accessed on October 13 2015</ref> | |||
*See how the cancer is responding to treatment | |||
*Predict how well a child will see after treatment | |||
===Bone marrow aspiration=== | |||
Bone marrow aspiration is not done very often during diagnosis and staging of retinoblastoma. It 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.<ref name="pmid7977596">{{cite journal| author=Mohney BG, Robertson DM| title=Ancillary testing for metastasis in patients with newly diagnosed retinoblastoma. | journal=Am J Ophthalmol | year= 1994 | volume= 118 | issue= 6 | pages= 707-11 | pmid=7977596 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7977596 }} </ref> | |||
===Lumbar puncture=== | |||
A lumbar puncture is not done very often during diagnosis and staging of retinoblastoma. It 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.<ref name="CCS"> Retinoblastoma. Canadian Cancer Society(2015) http://www.cancer.ca/en/cancer-information/cancer-type/retinoblastoma/diagnosis/?region=on Accessed on October 13 2015</ref> | |||
===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 reason to believe that the cancer has spread outside the eye.<ref name="CCS"> Retinoblastoma. Canadian Cancer Society(2015) http://www.cancer.ca/en/cancer-information/cancer-type/retinoblastoma/diagnosis/?region=on Accessed on October 13 2015</ref> | |||
===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. A germline mutation is an RB1 gene mutation that happened in a parent’s egg or sperm before conception (the joining of sperm and egg) and was passed on to the child. The genetic testing do not guide ocular therapy, but the presence of a germinal mutation can be helpful for screening for secondary cancers and family planning.<ref name="CCS"> Retinoblastoma. Canadian Cancer Society(2015) http://www.cancer.ca/en/cancer-information/cancer-type/retinoblastoma/diagnosis/?region=on Accessed on October 13 2015</ref> | |||
==References== | ==References== | ||
Revision as of 03:46, 14 October 2015
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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 wide-field fundus photography, spectral domain optical coherence tomography, fluorescein angiography and genetic testing. Biopsy, bone marrow aspiration, lumbar puncture and bone scan may be performed to detect metastases of retinoblastoma to outside the eye.
Other Diagnostic Studies
Wide-field fundus photography and spectral domain optical coherence tomography (sdOCT)
On wide-field fundus photography and spectral domain optical coherence tomography, retinal tumors may be noted and documented relative to optic nerve and fovea. It may note the presence of exudative retinal detachment, vitreous and subretinal seeding. Spectral domain optical coherence tomography (sdOCT) notes normal or abnormal foveal contour and may be exquisitely sensitive to document marginal tumor recurrence
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.[1]
Fluorescein angiography
Fluorescein angiography is a special type of x-ray procedure used to look at blood vessels inside the eye. A special orange dye called fluorescein is used to make blood vessels in the eye visible. The dye is injected into the arm and travels to the blood vessels in the eye. A series of pictures are then taken to:[1]
- See how the cancer is responding to treatment
- Predict how well a child will see after treatment
Bone marrow aspiration
Bone marrow aspiration is not done very often during diagnosis and staging of retinoblastoma. It 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.[2]
Lumbar puncture
A lumbar puncture is not done very often during diagnosis and staging of retinoblastoma. It 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.[1]
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 reason to believe that the cancer has spread outside the eye.[1]
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. A germline mutation is an RB1 gene mutation that happened in a parent’s egg or sperm before conception (the joining of sperm and egg) and was passed on to the child. The genetic testing do not guide ocular therapy, but the presence of a germinal mutation can be helpful for screening for secondary cancers and family planning.[1]
References
- ↑ 1.0 1.1 1.2 1.3 1.4 Retinoblastoma. Canadian Cancer Society(2015) http://www.cancer.ca/en/cancer-information/cancer-type/retinoblastoma/diagnosis/?region=on Accessed on October 13 2015
- ↑ Mohney BG, Robertson DM (1994). "Ancillary testing for metastasis in patients with newly diagnosed retinoblastoma". Am J Ophthalmol. 118 (6): 707–11. PMID 7977596.