Association of Ocular and Oculodermal Melanocytosis With the Rate of Uveal Melanoma Metastasis

Shields, Carol L.; Kaliki, Swathi; Livesey, Michael; Walker, Brianna; Garoon, Robert B.; Bucci, Marissa; Feinstein, Eric; Pesch, Aline; Gonzalez, Cristina; Lally, Sara E.; Mashayekhi, Arman; Shields, Jerry A.

doi:10.1001/jamaophthalmol.2013.129

Cited by 134 publications

(93 citation statements)

References 20 publications

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“…[3][4][5][6][7][8][9][10] We have previously reviewed our 40-year experience with uveal melanoma in over 8000 patients relative to patient age at presentation, clinical features, tumor size, presence of melanocytosis, and classification. [10][11][12][13] Herein, we explore this large cohort for the prevalence and outcomes of uveal melanoma based on patient race.…”

Section: Introductionmentioning

confidence: 99%

Prognosis of uveal melanoma based on race in 8100 patients: The 2015 Doyne Lecture

Shields

Kaliki

Cohen

et al. 2015

Eye

111

108

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A retrospective, nonrandomized, interventional case series of 8100 patients with uveal melanoma were evaluated for melanoma-related metastasis based on patient race. The patient race was Caucasian (n = 7918, 98%), Hispanic (n = 105, 1%), Asian (n = 44, o1%), or African American (n = 33, o1%). On the basis of race (Caucasian, Hispanic, Asian, and African American), significant differences were noted in mean age at presentation (58, 48, 44, and 52 years; Po0.001), distance of posterior tumor margin to foveola (5, 5, 6, and 4 mm; Po0.001), distance of posterior tumor margin to optic disc (5, 5, 6, and 4 mm) (Po0.001), tumor base (11, 12, 12, and 13 mm; Po0.001), tumor thickness (5.4, 7.1, 6.5, and 7.5 mm; Po0.001), intraocular hemorrhage (10, 14, 11, and 24%; P = 0.02), and rupture of Bruch's membrane (20, 27, 39, and 36%; P = 0.001). On the basis of multivariate analysis, the rate of metastasis increased with increasing age (Po0.001), ciliary body location (Po0.001), increasing tumor base (Po0.001), increasing tumor thickness (Po0.001), pigmented tumor (P = 0.001), subretinal fluid (P = 0.001), intraocular hemorrhage (P = 0.045), and extraocular extension (P = 0.036). KaplanMeier estimates of metastasis at 3, 5, and 10 were 8,15, and 25% in Caucasians;13,13, and 13% in Hispanics;4,4, and 36% in Asians;and 8,8, and 8% in African Americans. Compared with Caucasians, despite relative risk for metastasis of 0.31 for African Americans, 0.73 for Hispanics, and 1.42 for Asians, there was no statistical difference in metastasis, or death from uveal melanoma based on race. In summary, uveal melanoma showed similar prognosis for all races.

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Section: Introductionmentioning

confidence: 99%

Prognosis of uveal melanoma based on race in 8100 patients: The 2015 Doyne Lecture

Shields

Kaliki

Cohen

et al. 2015

Eye

111

108

View full text Add to dashboard Cite

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“…Singh et al [13] reported a 1 in 400 lifetime risk of developing uveal melanoma in patients with ocular or oculodermal melanoses, compared to a 1 in 13,000 lifetime risk in the general population. The median age at diagnosis of uveal melanoma was similar between both groups (60.5 compared to 62.5 years with or without melanosis, respectively) [13, 14]. However, ocular or oculodermal melanoses double the risk of metastatic uveal melanoma [14].…”

Section: Discussionmentioning

confidence: 99%

“…The median age at diagnosis of uveal melanoma was similar between both groups (60.5 compared to 62.5 years with or without melanosis, respectively) [13, 14]. However, ocular or oculodermal melanoses double the risk of metastatic uveal melanoma [14]. In other ethnic groups (i.e., Spanish patients), ocular and oculodermal melanoses were also found to be significant risk factors for uveal melanoma [15].…”

Section: Discussionmentioning

confidence: 99%

“…In other ethnic groups (i.e., Spanish patients), ocular and oculodermal melanoses were also found to be significant risk factors for uveal melanoma [15]. The increased risk for uveal melanoma with ocular or oculodermal melanosis has been proposed to arise from the increased numbers of melanocytes in these affected individuals [14]. However, the precise molecular and genetic pathomechanisms that enhance melanocyte transformation and metastasis are unclear.…”

Section: Discussionmentioning

confidence: 99%

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GNAQ and PMS1 Mutations Associated with Uveal Melanoma, Ocular Surface Melanosis, and Nevus of Ota

et al. 2019

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G protein mutations are common in uveal melanomas, and the vast majority target amino acid residue Q209 in either GNAQ or GNA11. The GNAQ R183Q mutation is found in a small fraction of uveal melanomas. We report a patient with an unusual presentation of uveal melanoma arising at an early age in the setting of congenital skin and ocular surface melanosis. A 34-year-old Hispanic female with congenital bilateral nevus of Ota and ocular surface melanosis presented with progressive loss of visual acuity and was found to have a juxtapapillary uveal melanoma. She was treated with brachytherapy, but the tumor relapsed. She underwent enucleation that revealed mixed spindle and epithelioid uveal melanoma cells with no extraocular or lymphovascular spread. Next-generation sequencing performed on DNA isolated from the enucleation specimen identified a GNAQ R183Q mutation and a PMS1 truncation mutation. Cytogenetic profiling revealed no monosomy 3. These findings raise the possibility that uveal melanomas bearing G protein R183 mutations may have distinct clinicopathologic profiles compared to those with Q209 mutations. Furthermore, this is the first reported case of a mutation in the mismatch repair gene PMS1 associated with uveal melanoma.

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“…Nevertheless, affected patients appear to be at increased risk for the development of melanoma, particularly of the uvea (21). The condition almost invariably results in esthetic discomfort and embarrassment for the patients.…”

Section: Discussionmentioning

confidence: 99%

Bilateral Naevus of Ota Successfully Treated With a Q-Switched Nd:yag 1064 Laser With a Review of the Literature

Heidemeyer¹,

Dietrich²,

Irla³

et al. 2018

RoJCED

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Background: Naevus of Ota, also called naevus fusculocoeruleus ophtalmomaxillaris, belongs to the group of dermal melanocytoses. It typically occurs in the Asian population, and it is extremely rare in Caucasians. The management of naevus of Ota has been challenging. Observation: We report a Caucasian patient presenting with a bilateral naevus of Ota which was successfully treated using a Q-Switched (QS) Nd: YAG 1064 laser. We further review the various available therapeutic options as well as the results obtained with various laser types, including the QS Nd: YAG 1064 and 532 nm, the QS ruby 694 nm and the QS alexandrite 755 nm lasers. Conclusion: Based on the remarkable clinical improvement observed in our case and previous reports, Q-Switched lasers currently represent the treatment of choice for the naevus of Ota. Development of picosecond techno logy in laser medicine has opened a new perspective for the treatment of Ota.

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Association of Ocular and Oculodermal Melanocytosis With the Rate of Uveal Melanoma Metastasis

Cited by 134 publications

References 20 publications

Prognosis of uveal melanoma based on race in 8100 patients: The 2015 Doyne Lecture

Prognosis of uveal melanoma based on race in 8100 patients: The 2015 Doyne Lecture

GNAQ and PMS1 Mutations Associated with Uveal Melanoma, Ocular Surface Melanosis, and Nevus of Ota

Bilateral Naevus of Ota Successfully Treated With a Q-Switched Nd:yag 1064 Laser With a Review of the Literature

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