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Iris melanomas are less common than choroidal melanomas. Uveal melanoma may be classified into several subtypes based on their location, based on ophthalmoscopic examination and based on the cell type. According to the Callender classification, there are four subtypes of uveal melanoma based on the cell type. [[Genes]] involved in the pathogenesis of uveal melanoma include ''GNAQ'', ''GNA11'', and ''BAP1''. Uveal melanoma is caused by a [[mutation]] in the [[DNA]]. The incidence of uveal melanoma in the United States is approximately 0.43 per 100,000 individuals. The majority of uveal melanoma cases are reported in Europe and United States. The incidence of uveal melanoma increases with age; the median age at diagnosis is 60 years. Males are more commonly affected with uveal melanoma than females. Uveal melanoma commonly affects individuals older than twenty years of age. Caucasians are more commonly affected with uveal melanoma than Africans. Common risk factors in the development of uveal melanoma are [[cutaneous]] and [[iris]] [[nevi]], host pigmentation factors, ultraviolet light exposure, caucasian race, and certain inherited skin disorders such as [[dysplastic nevus syndrome]] and [[ocular]] melanocytosis. If left untreated, 50% of patients with uveal melanoma may progress to develop [[metastasis]]. Common complications of uveal melanoma include [[glaucoma]], [[vision loss]], and [[metastasis]]. Prognosis is generally good for patients with iris melanoma, and the 10 year-survival for iris melanoma is approximately 95 percent and for ciliochoroidal [[tumors]] is 77 percent respectively. Symptoms of uveal melanoma include [[eye pain]], [[eye redness]], loss of peripheral vision, poor or blurry vision in one eye, a dark spot on the iris, flashing lights, floaters, and symptoms of glaucoma.
Iris melanomas are less common than choroidal melanomas. Uveal melanoma may be classified into several subtypes based on their location, based on ophthalmoscopic examination and based on the cell type. According to the Callender classification, there are four subtypes of uveal melanoma based on the cell type. [[Genes]] involved in the pathogenesis of uveal melanoma include ''GNAQ'', ''GNA11'', and ''BAP1''. Uveal melanoma is caused by a [[mutation]] in the [[DNA]]. The incidence of uveal melanoma in the United States is approximately 0.43 per 100,000 individuals. The majority of uveal melanoma cases are reported in Europe and United States. The incidence of uveal melanoma increases with age; the median age at diagnosis is 60 years. Males are more commonly affected with uveal melanoma than females. Uveal melanoma commonly affects individuals older than twenty years of age. Caucasians are more commonly affected with uveal melanoma than Africans. Common risk factors in the development of uveal melanoma are [[cutaneous]] and [[iris]] [[nevi]], host pigmentation factors, ultraviolet light exposure, caucasian race, and certain inherited skin disorders such as [[dysplastic nevus syndrome]] and [[ocular]] melanocytosis. If left untreated, 50% of patients with uveal melanoma may progress to develop [[metastasis]]. Common complications of uveal melanoma include [[glaucoma]], [[vision loss]], and [[metastasis]]. Prognosis is generally good for patients with iris melanoma, and the 10 year-survival for iris melanoma is approximately 95 percent and for ciliochoroidal [[tumors]] is 77 percent respectively. Symptoms of uveal melanoma include [[eye pain]], [[eye redness]], loss of peripheral vision, poor or blurry vision in one eye, a dark spot on the iris, flashing lights, floaters, and symptoms of glaucoma.
The optimal therapy for uveal melanoma depends on the size of the tumor. The various treatment modalities for uveal melanoma include [[enucleation]], [[plaque ]] [[brachytherapy]], external beam [[proton therapy]], transupillary [[thermotherapy]], [[Gamma Knife]] [[stereotactic radiosurgery]], and resection of the tumor.
The optimal therapy for uveal melanoma depends on the size of the tumor. The various treatment modalities for uveal melanoma include [[enucleation]], [[plaque ]] [[brachytherapy]], external beam [[proton therapy]], transupillary [[thermotherapy]], [[Gamma Knife]] [[stereotactic radiosurgery]], and resection of the tumor.
== Historical Perspective ==
Uveal melanoma was first discovered by two Scottish surgeons, Allan Burns (1781–1813) and James Wardrop (1782–1869). Allan Burns described the first [[Patient|patients]] with uveal melanoma, Mrs Scot who had [[pain]]<nowiki/>less [[blindness]] in one [[eye]] and an opacity behind the [[Lens (anatomy)|lens]].


==Classification==
==Classification==
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[[Uveal]] [[melanoma]] is caused by a [[mutation]] in the [[DNA]].
[[Uveal]] [[melanoma]] is caused by a [[mutation]] in the [[DNA]].
==Differential Diagnosis==
==Differential Diagnosis==
[[Uvea (anatomy)|Uveal]] [[melanoma]] must be differentiated from pigmented [[nevi]], [[congenital]] [[hypertrophy]] of the [[retinal pigment epithelium]], [[optic disc ]] [[melanocytoma]], [[hypertrophy]] of the [[retinal pigment epithelium]], [[hyperplasia]] of [[retinal pigment epithelium]], [[choroidal]] [[hemangioma]], [[choroidal]] [[metastasis]], [[choroidal]] [[osteoma]], peripheral [[exudative]] hemorrhagic chorioretinopathy, [[choroidal]] [[hemorrhage]], hemorrhagic detachment of [[retina]] and [[retinal pigment epithelium]], [[posterior]] [[nodular]] [[scleritis]], intraocular [[leiomyoma]], [[adenoma]] of [[retinal pigment epithelium]], [[retinoblastoma]], uveal [[metastasis]], choroidal detachment, [[choroidal]] [[hemangioma]], [[choroidal]] [[cyst]], uveal [[neurofibroma]], and uveal [[schwannoma]].
Uveal melanoma must be differentiated from [[Retinoblastoma-like protein 1|retinoblastoma]], [[coats disease]], persistent fetal vasculature, [[Astrocyte|astrocytic]] [[hamartoma]], [[retinopathy of prematurity]], [[ocular]] [[toxocariasis]], [[familial exudative vitreoretinopathy]], [[Norrie disease|norrie’s disease]], and [[coloboma]].


==Epidemiology and Demographics==
==Epidemiology and Demographics==
The [[incidence]] of [[uveal]] [[melanoma]] in the [[United States]] is approximately 0.43 per 100, 000 individuals. The [[incidence]] of [[Uvea (anatomy)|uveal]] [[melanoma]] is approximately .53 to 1.09 cases per 100, 000 individuals worldwide. The [[incidence]] of [[Uvea (anatomy)|uveal]] [[melanoma]] increases with age; the median age at diagnosis is 70 years. [[Males]] are more commonly affected with [[uveal]] [[melanoma]] than [[females]]. The [[incidence]] of [[Uvea (anatomy)|uveal]] [[melanoma]] in [[males]] and [[females]] is approximately 0.49 and 0.37 per 100,000 individuals respectively. [[Uvea (anatomy)|Uveal]] [[melanoma]] usually affects individuals of the caucasians race.
The [[incidence]] of uveal [[melanoma]] in the [[United States]] is approximately 0.43 per 100, 000 individuals. The [[incidence]] of [[Uvea (anatomy)|uveal]] [[melanoma]] is approximately .53 to 1.09 cases per 100, 000 individuals worldwide. The [[incidence]] of [[Uvea (anatomy)|uveal]] [[melanoma]] increases with age; the median age at diagnosis is 70 years. [[Males]] are more commonly affected with uveal [[melanoma]] than [[females]]. The [[incidence]] of [[Uvea (anatomy)|uveal]] [[melanoma]] in [[males]] and [[females]] is approximately 0.49 and 0.37 per 100,000 individuals respectively. [[Uvea (anatomy)|Uveal]] [[melanoma]] usually affects individuals of the caucasians race.
==Risk Factors==
==Risk Factors==
Common risk factors in the development of [[Uvea (anatomy)|uveal]] [[melanoma]] include advanced age, [[male]] gender, white race, [[Genetics|genetic]], [[ocular]] [[nevi]], [[pregnancy]], [[Immune system disorder|impaired immune system]], light colored irides, sunlight exposure, and [[trauma]].
Common [[Risk factor|risk factors]] in the development of [[Uvea (anatomy)|uveal]] [[melanoma]] include advanced age, [[male]] gender, white race, [[Genetics|genetic]], [[ocular]] [[nevi]], [[pregnancy]], [[Immune system disorder|impaired immune system]], light colored [[iris]], [[sunlight]] exposure, and [[trauma]].


==Screening==
==Screening==
According to the United States Preventive Services Task Force, screening for [[Uvea (anatomy)|uveal]] [[melanoma]] is not recommended.
According to the United States Preventive Services Task Force, screening for [[Uvea (anatomy)|uveal]] [[melanoma]] is not recommended.
==Natural History, Complications and Prognosis==
==Natural History, Complications and Prognosis==
If left untreated, 50% of patients with uveal melanoma may progress to develop [[metastasis]]. Common complications of uveal melanoma include [[glaucoma]], [[vision loss]], and [[metastasis]]. Prognosis is generally good for patients with iris melanoma, and the 10 year-survival for iris melanoma is approximately 95 percent and for ciliochoroidal tumors is 77 percent respectively.
If left untreated, 50% of patients with uveal melanoma may progress to develop [[metastasis]]. Common [[complications]] of uveal melanoma include [[glaucoma]], [[vision loss]], and [[metastasis]]. [[Prognosis]] is generally good for [[Patient|patients]] with [[iris]] [[melanoma]], and the 10 year-[[Survival rate|survival]] for iris melanoma is approximately 95 percent and for ciliochoroidal [[tumors]] is 77 percent respectively.
==Staging==
==Diagnostic Study of Choice==
According to the American Joint Committee on Cancer, there are four stages of uveal melanoma based on the [[tumor]] [[size]], spread to nearby [[lymph nodes]], and [[metastasis]]. Each stage is assigned a number 0 through 4 that indicate increasing severity and letters T, N, and M that designate the tumor size, spread to nearby lymph nodes, and metastasis respectively.
There is no single diagnostic study of choice for the [[diagnosis]] of uveal melanoma, but uveal melanoma can be diagnosed based on [[Ophthalmology|ophthalmologic]] examination and [[imaging]].
==History and Symptoms==
==History and Symptoms==
Symptoms of uveal melanoma include [[eye pain]], [[eye redness]], loss of [[peripheral vision]], poor or blurry vision in one eye, a dark spot on the iris, [[flashing lights]], floaters, and symptoms of glaucoma.
A positive [[History and Physical examination|history]] of pre-existing [[iris]] [[nevus]] which increased in size, [[eye pain]], [[Vision loss|visual loss]], [[blurred vision]], [[Floater|floaters]], age between 50_70 years old, [[male]] gender, white [[race]], [[pregnancy]], [[Immune system disorder|impaired immune system]], light colored-irides, [[sunlight]] exposure, [[trauma]], and [[Fluorescence|fluorescent]] lighting exposure is suggestive of uveal melanoma. The most common [[Symptom|symptoms]] of name] include ,[[eye pain]], [[blurred vision]], [[eye]] redness, loss of [[peripheral vision]], poor or [[blurry vision]] in one [[eye]], a dark spot on the [[iris]], seeing flashing lights, and [[Floater|floaters]].
==Physical Examination==
==Physical Examination==
Common physical examination findings of uveal melanoma include presence of dark spot on the iris, [[anisicoria]], loss of peripheral vision, decreased [[visual acuity]] and [[photopsia]].
Patients with uveal melanoma usually appear normal. Physical examination of [[Patient|patients]] with uveal melanoma is usually remarkable for [[Ophthalmology|ophthalmologic]] findings of melanoma.
==Laboratory Tests==
==Laboratory Tests==
Some patients with uveal melanoma may have elevated concentration of complete and differential [[blood counts]] and elevated [[liver enzyme]] levels, which is usually suggestive of metastasis of uveal melanoma to the [[liver]].
Some [[patients]] with uveal melanoma may have elevated [[liver enzyme]] level, which is usually suggestive of [[metastasis]].
==Chest X Ray==
 
Chest x-rays may be performed to detect metastases of uveal melanoma to the [[lungs]].
== Electrocardiogram ==
There are no [[ECG]] findings associated with uveal melanoma.
 
==X Ray==
There are no [[x-ray]] findings associated with uveal melanoma.
 
== Ultrasound ==
[[Ultrasound]] may be helpful in the [[diagnosis]] of uveal melanoma. Findings on an [[ultrasound]] suggestive of uveal melanoma include low reflectivity, [[vascularity]] inside the [[tumor]], and acoustic hollowing. it can differentiate [[ciliary body]] [[cyst]] from [[tumor]] in lesions larger than 3 mm.
 
==CT Scan==
==CT Scan==
On [[head]] and [[neck]] [[CT scan]], uveal melanoma is characterized by elevated, hyperdense sharply marginated lenticular or mushroom shaped [[lesions]] that enhance with administration of contrast.
[[CT scan]] may be helpful in the [[diagnosis]] of uveal. Findings on [[CT scan]] suggestive of uveal melanoma include elevated mushroom shaped [[lesions]], hyper-dense, and [[contrast]]<nowiki/>enhancement.
==MRI scan==
==MRI scan==
Head and neck MRI scan is diagnostic of uveal melanoma. On [[head]] and [[neck]] [[MRI]], uveal melanoma is characterized by isointense to hypointense mass on T1-weighted MRI and hyperintense mass on T2-weighted MRI.
[[MRI]] may be helpful in the [[diagnosis]] of uveal melanoma. Findings on [[MRI]] suggestive of uveal melanoma include high intensity [[mass]] [[lesion]] (due to [[melanin]] and [[hemorrhage]]) on [[T1]], and low intensity [[mass]] lesion on T2. The [[lesion]] enhances with [[gadolinium]].
==Ultrasound==
On ultrasound, uveal melanoma is characterized by internal vascularity, collar button shape, and solid low to medium echotexture.
==Other Imaging Studies==
==Other Imaging Studies==
Other imaging studies of uveal melanoma include PET scan, [[ultrasound biomicroscopy]], [[optical coherence tomography]], [[color fundus photography]], [[fluorescein angiography]], [[indocyanine green angiography]], [[transillumination]], and [[photography]].
[[PET scan]], [[ultrasound]] biomicroscopy, [[optical coherence tomography]], color [[fundus]] photography, [[fluorescein angiography]], indocyanine green [[angiography]], [[transillumination]], and photography may be helpful in the [[diagnosis]] of uveal melanoma.


==Other Diagnostic Tests==
==Other Diagnostic Tests==
Other diagnostic studies for uveal melanoma include biopsy.
[[Biopsy]] may be helpful in the diagnosis of uveal melanoma.


==Medical therapy==
==Medical therapy==
The optimal therapy for uveal melanoma depends on the size of the tumor. The various treatment modalities for uveal melanoma include [[enucleation]], [[plaque brachytherapy]], external beam [[proton therapy]], [[transupillary]] [[thermotherapy]], [[Gamma Knife]] [[stereotactic radiosurgery]], and rection of the tumor.
The optimal therapy for uveal melanoma depends on the size of the tumor. The various treatment modalities for uveal melanoma include [[enucleation]], [[plaque brachytherapy]], external beam [[proton therapy]], [[transupillary]] [[thermotherapy]], [[Gamma Knife]] [[stereotactic radiosurgery]], and rection of the tumor.
==Surgical therapy==
==Surgical therapy==
Surgery is the mainstay of treatment for uveal melanoma.
[[Surgery]] is the mainstay of treatment for uveal melanoma. The following types of [[surgery]] may be used [[resection]], [[enucleation]], and exenteration.
==Primary Prevention==
==Primary Prevention==
There is no established method for prevention of uveal melanoma.
There is no established method for prevention of uveal melanoma.
==Secondary Prevention==
==Secondary Prevention==
Secondary prevention strategies following uveal melanoma include dilated [[fundus]] examination, [[liver function tests]], abdominal [[MRI]] and abdominal [[ultrasound]].
There are no established measures for the secondary prevention of uveal melanoma.
== References ==  
== References ==  
{{Reflist|2}}
{{Reflist|2}}

Revision as of 17:55, 13 August 2019

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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

Uveal melanoma is a cancer of the eye involving the iris, ciliary body, or choroid. Uveal melanoma arise from melanocytes in the uvea. Uveal melanoma is a rare disease, but the most common primary intraocular malignancy. Iris melanomas are less common than choroidal melanomas. Uveal melanoma may be classified into several subtypes based on their location, based on ophthalmoscopic examination and based on the cell type. According to the Callender classification, there are four subtypes of uveal melanoma based on the cell type. Genes involved in the pathogenesis of uveal melanoma include GNAQ, GNA11, and BAP1. Uveal melanoma is caused by a mutation in the DNA. The incidence of uveal melanoma in the United States is approximately 0.43 per 100,000 individuals. The majority of uveal melanoma cases are reported in Europe and United States. The incidence of uveal melanoma increases with age; the median age at diagnosis is 60 years. Males are more commonly affected with uveal melanoma than females. Uveal melanoma commonly affects individuals older than twenty years of age. Caucasians are more commonly affected with uveal melanoma than Africans. Common risk factors in the development of uveal melanoma are cutaneous and iris nevi, host pigmentation factors, ultraviolet light exposure, caucasian race, and certain inherited skin disorders such as dysplastic nevus syndrome and ocular melanocytosis. If left untreated, 50% of patients with uveal melanoma may progress to develop metastasis. Common complications of uveal melanoma include glaucoma, vision loss, and metastasis. Prognosis is generally good for patients with iris melanoma, and the 10 year-survival for iris melanoma is approximately 95 percent and for ciliochoroidal tumors is 77 percent respectively. Symptoms of uveal melanoma include eye pain, eye redness, loss of peripheral vision, poor or blurry vision in one eye, a dark spot on the iris, flashing lights, floaters, and symptoms of glaucoma. The optimal therapy for uveal melanoma depends on the size of the tumor. The various treatment modalities for uveal melanoma include enucleation, plaque brachytherapy, external beam proton therapy, transupillary thermotherapy, Gamma Knife stereotactic radiosurgery, and resection of the tumor.

Historical Perspective

Uveal melanoma was first discovered by two Scottish surgeons, Allan Burns (1781–1813) and James Wardrop (1782–1869). Allan Burns described the first patients with uveal melanoma, Mrs Scot who had painless blindness in one eye and an opacity behind the lens.

Classification

Uveal melanoma may be classified according to cell type into 5 subtypes: Spindle A, spindle B, epitheliolid, mixed, and necrotic. Uveal melanoma may also be classified according to its location into 2 types, anterior uveal melanoma which contain iris melanoma, and posterior uveal melanoma which contains ciliary body melanoma and chroidal melanoma.

Pathophysiology

It is understood that uveal melanoma is the result of genetic mutations. Activating mutations in GNAQ or GNA11, genes encoding for G protein alpha subunits. These mutations lead to activation of downstream signaling pathways including the MAPK pathway in uveal melanoma. Inactivating somatic mutations are present in the gene encoding BRCA1-associated protein 1 (BAP1) on chromosome 3p21.1. The mutations in the gene BAP1 are strongly linked to metastatic spread and patient survival. Conditions associated with uveal melanoma include ocular nevi, impaired immune system, pregnancy, and trauma. On microscopic histopathological analysis, we have 5 subtypes according to cell type into: Spindle A, spindle B, epitheliolid, mixed, and necrotic.

Causes

Uveal melanoma is caused by a mutation in the DNA.

Differential Diagnosis

Uveal melanoma must be differentiated from retinoblastoma, coats disease, persistent fetal vasculature, astrocytic hamartoma, retinopathy of prematurity, ocular toxocariasis, familial exudative vitreoretinopathy, norrie’s disease, and coloboma.

Epidemiology and Demographics

The incidence of uveal melanoma in the United States is approximately 0.43 per 100, 000 individuals. The incidence of uveal melanoma is approximately .53 to 1.09 cases per 100, 000 individuals worldwide. The incidence of uveal melanoma increases with age; the median age at diagnosis is 70 years. Males are more commonly affected with uveal melanoma than females. The incidence of uveal melanoma in males and females is approximately 0.49 and 0.37 per 100,000 individuals respectively. Uveal melanoma usually affects individuals of the caucasians race.

Risk Factors

Common risk factors in the development of uveal melanoma include advanced age, male gender, white race, genetic, ocular nevi, pregnancy, impaired immune system, light colored iris, sunlight exposure, and trauma.

Screening

According to the United States Preventive Services Task Force, screening for uveal melanoma is not recommended.

Natural History, Complications and Prognosis

If left untreated, 50% of patients with uveal melanoma may progress to develop metastasis. Common complications of uveal melanoma include glaucoma, vision loss, and metastasis. Prognosis is generally good for patients with iris melanoma, and the 10 year-survival for iris melanoma is approximately 95 percent and for ciliochoroidal tumors is 77 percent respectively.

Diagnostic Study of Choice

There is no single diagnostic study of choice for the diagnosis of uveal melanoma, but uveal melanoma can be diagnosed based on ophthalmologic examination and imaging.

History and Symptoms

A positive history of pre-existing iris nevus which increased in size, eye pain, visual loss, blurred vision, floaters, age between 50_70 years old, male gender, white race, pregnancy, impaired immune system, light colored-irides, sunlight exposure, trauma, and fluorescent lighting exposure is suggestive of uveal melanoma. The most common symptoms of name] include ,eye pain, blurred vision, eye redness, loss of peripheral vision, poor or blurry vision in one eye, a dark spot on the iris, seeing flashing lights, and floaters.

Physical Examination

Patients with uveal melanoma usually appear normal. Physical examination of patients with uveal melanoma is usually remarkable for ophthalmologic findings of melanoma.

Laboratory Tests

Some patients with uveal melanoma may have elevated liver enzyme level, which is usually suggestive of metastasis.

Electrocardiogram

There are no ECG findings associated with uveal melanoma.

X Ray

There are no x-ray findings associated with uveal melanoma.

Ultrasound

Ultrasound may be helpful in the diagnosis of uveal melanoma. Findings on an ultrasound suggestive of uveal melanoma include low reflectivity, vascularity inside the tumor, and acoustic hollowing. it can differentiate ciliary body cyst from tumor in lesions larger than 3 mm.

CT Scan

CT scan may be helpful in the diagnosis of uveal. Findings on CT scan suggestive of uveal melanoma include elevated mushroom shaped lesions, hyper-dense, and contrastenhancement.

MRI scan

MRI may be helpful in the diagnosis of uveal melanoma. Findings on MRI suggestive of uveal melanoma include high intensity mass lesion (due to melanin and hemorrhage) on T1, and low intensity mass lesion on T2. The lesion enhances with gadolinium.

Other Imaging Studies

PET scan, ultrasound biomicroscopy, optical coherence tomography, color fundus photography, fluorescein angiography, indocyanine green angiography, transillumination, and photography may be helpful in the diagnosis of uveal melanoma.

Other Diagnostic Tests

Biopsy may be helpful in the diagnosis of uveal melanoma.

Medical therapy

The optimal therapy for uveal melanoma depends on the size of the tumor. The various treatment modalities for uveal melanoma include enucleation, plaque brachytherapy, external beam proton therapy, transupillary thermotherapy, Gamma Knife stereotactic radiosurgery, and rection of the tumor.

Surgical therapy

Surgery is the mainstay of treatment for uveal melanoma. The following types of surgery may be used resection, enucleation, and exenteration.

Primary Prevention

There is no established method for prevention of uveal melanoma.

Secondary Prevention

There are no established measures for the secondary prevention of uveal melanoma.

References

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