Multifocal Choroidal Melanoma in a Patient With Germ Line Brca-Associated Protein 1 Mutation

Rao, Raksha; Pointdujour-Lim, Renelle; Ganguly, Arupa; Shields, Carol L.

doi:10.1097/icb.0000000000000432

Cited by 22 publications

(28 citation statements)

References 26 publications

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“…In recent years, BAP1 mutation has been suggested as both a risk factor for uveal melanoma metastasis, as well as for the development of uveal melanoma within a germline BAP1 mutation tumor syndrome, which also includes mesothelioma, skin melanoma, and renal cell carcinoma [9, 23-25]. Furthermore, the possible relationship between germline BAP1 mutation and multifocal uveal melanoma has been suggested [7]. However, germline BAP1 mutation was absent in both of our cases.…”

Section: Discussionmentioning

confidence: 49%

“…Bilateral uveal melanoma has been reported, with an estimated lifetime risk of 1 in 50 million, whereas unilateral, multifocal uveal melanoma appears to be even rarer [1-4]. Very few cases of unilateral multifocal uveal melanoma have been reported [5-7]. Some reported cases occurred in the setting of ocular melanocytosis, which strongly predisposes to uveal melanoma [8].…”

Section: Introductionmentioning

confidence: 99%

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Multifocal Primary Uveal Melanoma: Clinical and Molecular Characteristics

et al. 2018

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We report two patients who developed a second distinct choroidal melanoma in the same eye following successful regression of their first choroidal melanoma after iodine-125 plaque brachytherapy. Neither patient demonstrated ocular melanocytosis, local tumor recurrence, or vitreous seeding. One patient had the second tumor arising from a previously documented choroidal nevus, and after undergoing enucleation, there was no detectable connection between the tumors on histopathologic examination. Germline BAP1 mutation was absent in both cases. Multifocal primary uveal melanoma is a rare entity in which the second tumor may occur either de novo or from a malignant transformation of a choroidal nevus. Known risk factors include ocular melanocytosis or germline BAP1 mutation. Additional underlying mechanisms have yet to be elucidated.

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Section: Discussionmentioning

confidence: 49%

Section: Introductionmentioning

confidence: 99%

Multifocal Primary Uveal Melanoma: Clinical and Molecular Characteristics

et al. 2018

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“…Multifocal uveal melanomas have been associated with BRCA-associated protein 1 (BAP 1) mutations [8], familial cancer syndromes [9], and ocular melanocytosis [10-12]. While there have been over 20 reports of multiple melanomas in the same eye [1, 2, 4, 5, 13], this case is unique given the identification of 2 distinct melanomas with 1 arising from a nevus in the absence of clinical melanocytosis.…”

Section: Discussionmentioning

confidence: 96%

Two Uveal Melanomas in One Eye: A Choroidal Nevus Giving Rise to a Melanoma in an Eye with a Separate Large Choroidal Melanoma

et al. 2018

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Multifocal uveal melanomas are extremely rare. In this case report, we describe a patient with 2 independent uveal melanomas in the same eye. A 52-year-old woman presented with a large choroidal melanoma and a smaller ciliary body mass, clinically thought to be a nevus, in her left eye. Enucleated specimen showed 2 primary lesions that were anatomically separate. Lesion 1 was a melanoma and lesion 2 was a melanoma arising centrally from a nevus. Both lesions harbored GNAQ mutations. This patient had no family history of uveal melanomas or signs of ocular melanocytosis and was negative for the BAP1 mutation. This case demonstrates how multifocal uveal melanomas can arise in patients who lack genetic predisposition for the disease. Furthermore, this case is one of the few that have shown, histopathologically, a small focus of malignant cells developing from a benign population within a nevus, which highlights the importance of closely monitoring nevi for signs of malignancy.

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“…Spontaneous closure of macular hole may occur in trauma-related cases, postvitrectomy, or may be idiopathic [4]. Spontaneous resolution may also be observed albeit rarely after Valsalva retinopathy.…”

Section: Introductionmentioning

confidence: 99%

Spontaneous Macular Hole Closure after Valsalva Retinopathy and Nd:YAG Laser Treatment

Süren

Akıdan²,

Erol

et al. 2018

Case Reports in Ophthalmological Medicine

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Purpose The purpose of this report is to present a case who had spontaneous macular hole closure after Nd:YAG laser membranotomy applied to premacular haemorrhage associated with Valsalva retinopathy. Methods Case report. Results A 19-year-old young male patient presented to our clinic with sudden vision loss in his right eye, which had occurred 2 weeks before, following push-up and sit-up exercise. The patient was found to have premacular haemorrhage associated with Valsalva retinopathy. Nd:YAG laser membranotomy was performed. During his follow-up at week 1, full-thickness MH was observed and he was put under observation. At month 6, his vision acuity improved, laser coagulation sites in the fundus disappeared, and macular hole closed spontaneously. Conclusion Macular hole that develops after Nd:YAG laser treatment of Valsalva retinopathy may spontaneously be closed like in our case. However, there is a need for further research to understand the mechanism of closure.

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Multifocal Choroidal Melanoma in a Patient With Germ Line Brca-Associated Protein 1 Mutation

Cited by 22 publications

References 26 publications

Multifocal Primary Uveal Melanoma: Clinical and Molecular Characteristics

Multifocal Primary Uveal Melanoma: Clinical and Molecular Characteristics

Two Uveal Melanomas in One Eye: A Choroidal Nevus Giving Rise to a Melanoma in an Eye with a Separate Large Choroidal Melanoma

Spontaneous Macular Hole Closure after Valsalva Retinopathy and Nd:YAG Laser Treatment

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