Late Solitary Extraocular Recurrence From Previously Resected Iris Melanoma

Fabian, Ido Didi; AlHarby, Lamis; Sisley, Karen; Mudhar, Hardeep Singh; Doherty, Rachel; Stacey, Andrew W.; Arora, Amit; Cohen, Victoria M L; Sagoo, Mandeep S.

doi:10.1016/j.ajo.2017.06.025

Cited by 10 publications

(3 citation statements)

References 35 publications

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“…Recurrence rate was 7.7% in their series [23]. Fabian et al reported four cases with extraocular relapse after previously resected iris melanoma at a mean of 21 years following initial surgery [24]. This report highlights the need for long-term follow-up for patients that previously underwent melanoma resection.…”

Section: Discussionmentioning

confidence: 78%

Partial lamellar sclerouvectomy surgery for anteriorly located uveal tumour resection: a 20-year experience

Mirzayev

Gündüz

Heper

2021

Eye

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Objectives To investigate the results of partial lamellar sclerouvectomy (PLSU) for anteriorly located uveal tumours. Methods We reviewed the tumour features, histopathologic findings, complications, visual acuity outcomes, eye preservation, metastasis, and mortality data of 56 cases with uveal tumours who underwent PLSU between February 1999 and February 2019. ResultsThe mean largest tumour base diameters were 5.8 × 3.4 mm and the mean tumour thickness was 3.3 mm. Histopathologically, 30 (53.6%) eyes had malignant melanoma, 13 (23.2%) had nevus, 5 (8.9%) had iris stromal cyst, 4 (7.1%) had melanocytoma, 2 (3.6%) had Fuchs' adenoma, 1 (1.8%) had iris pigment epithelial cyst, and 1 (1.8%) had invasive breast cancer metastasis. The most common postoperative complications included cataract in 21 (37.5%) eyes, vitreous haemorrhage in 15 (26.8%), scleral thinning in 10 (17.9%), and hyphema in 6 (10.7%). At a mean follow-up of 40.4 (range: 10-201) months, tumour recurrence was observed in 2/30 (6.7%) eyes with melanoma and 1/5 (20.0%) eye with iris stromal cyst. Eyes with recurrent melanoma were treated with enucleation. Liver metastasis developed in only 1 (3.3%) melanoma case. All patients were alive at the end of follow-up. Conclusions PLSU is a successful treatment method for many anteriorly located uveal tumours. In our series, the overall tumour recurrence and globe salvage rates were 5.4% and 96.4% respectively. Among melanoma cases, the metastasis rate was 3.3% and survival rate was 100%.

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Section: Discussionmentioning

confidence: 78%

Partial lamellar sclerouvectomy surgery for anteriorly located uveal tumour resection: a 20-year experience

Mirzayev

Gündüz

Heper

2021

Eye

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“…The other 2 cases with a more UM-like profile (2 and 3) had no metastases at the point of study, but did have some characteristic indicators of poor prognosis, including those that may predispose to metastasis over a longer period. 7,13,20,25,31,32 Extended observation may clarify the association. For cases 4, 5, and 6, there was no consistent biomarker that related to the development of metastasis, and just as with conjunctival melanoma, further biomarkers would be advantageous.…”

Section: Discussionmentioning

confidence: 88%

Genetic Profiling of Primary Orbital Melanoma

et al. 2019

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Purpose: To analyze the genetic profile of 6 cases of primary orbital melanoma with clinicopathologic correlation. Design: Retrospective noninterventional study to analyze the genetic profile of 6 cases of primary orbital melanoma and to correlate the genetic findings with prognosis and clinicopathologic features. Inclusion criteria were patients with primary orbital melanoma with no evidence of primary eyelid skin, conjunctival, uveal, or remote melanoma at extraocular sites. Participants: The study involved 6 primary orbital melanomas from 6 patients. Four patients were exenterated and 2 had incisional biopsies performed. Methods: Clinical notes and radiologic records were assessed to ascertain clinical tumor behavior. Sections were stained with hematoxylineeosin and exposed to immunohistochemistry for S100, MelA, HMB45, Sox10, and BAP1. Melanoma DNA was exposed to array comparative genomic hybridization to assess gross chromosomal copy number changes. Point mutation assessment and Sanger sequencing were performed for GNAQ, GNA11, BRAF, NRAS, pTERT, SF3B1, and EIF1AX. Main Outcome Measures: These were the presence of gross chromosomal copy number changes and the presence of mutations in GNAQ, GNA11, BRAF, NRAS, pTERT, SF3B1, and EIF1AX; the presence of metastases and time period between diagnosis and death from melanoma; and correlation between the tumor genetic profile and the clinical behavior of the tumor. Results: One of the 6 cases was clinically associated with oculodermal melanocytosis. Of the 6 patients, 3 died of melanoma metastases and 1 of unrelated causes; 2 remain alive at last review. Three of the 6 cases were histologically associated with a benign precursor lesion. All melanomas expressed S100, MelA, HMB45, and Sox10. One patient showed loss of BAP1 nuclear staining. The most frequent chromosomal gains across the 6 cases, in order of frequency, were 6p, 8q, 17q, 6q, and 20p. The most frequently lost regions were 1p, 9p, 16q, and 17p. One patient showed monsomy 3 and gain of 8q (and showed the BAP1 loss). Mutations were found in GNAQ (1 case), GNA11 (1 case), SF3B1 (2 cases), NRAS (2 cases), and pTERT (2 cases). Conclusions: The data point to 2 genetic groups for primary orbital conjunctiva melanoma-like and a uveal melanomaelike group. A larger study would help confirm this suggestion. Ophthalmology 2019;126:1045-1052 ª 2019 by the American Academy of Ophthalmology Primary orbital melanoma accounts for less than 1% of all primary orbital neoplasms. 1 In the largest clinicopathologic series on this subject to date, all 21 cases occurred in white patients, with a mean age at diagnosis of 42 years. Of these cases, 19 (90%) were associated with an orbital blue nevus. Of these 19 cases, 10 cases also showed some form of congenital melanosis (nevus of Ota or ocular melanocytosis). 2 Death from metastatic tumor occurred in 38% of cases, after a mean of 4.5 years follow-up, with liver (88%) and brain (12%) being main targets of metastases. 2 A recent clinical study of 13 cases showed mortality from the ...

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“…Evidence suggests that iris melanomas also exhibit abnormalities in other chromosomes, which are less commonly affected in posterior uveal melanomas. These include changes in chromosome 9p, which is more frequently associated with cutaneous melanoma, as well as rearrangements involving chromosome 18 [ 57 ]. Studies have indicated that iris melanomas exhibit mutations shared with both posterior UMs and cutaneous melanomas (CM) [ 58 ].…”

Section: Genetic Basis Of Uveal Melanomamentioning

confidence: 99%

Genetic and Epigenetic Features of Uveal Melanoma—An Overview and Clinical Implications

Pašalić

Nikuševa-Martić

Sekovanić

et al. 2023

IJMS

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Uveal melanoma (UM) is rare, but it is the most common primary intraocular malignancy among adults. This review represents the molecular, genetic, and immunobiological mechanisms involved in UM carcinogenesis and progression, as well as data about the association of chromosomal changes, genetic mutations, selective proteins, and biochemical biomarkers with the clinical implications of UM. Genetic analysis has the potential to identify patients with a high risk of UM metastasis, enabling management that is more effective and allowing for the follow-up of patients. Advancements in molecular characterization of UM offer opportunities to develop targeted therapeutic strategies by focusing on relevant signaling pathways. Changes in miRNA expression could be useful in the diagnosis and prognosis of UM, due to unique miRNA profiles in melanoma cells or tissue and its association with metastasis. Although liver function tests do not provide enough data on the prognosis of UM, due to the high frequency of liver metastasis, liver function tests (LFTs) might be useful indicators; however, the absence of rising LFT values cannot lead to the exclusion of liver metastases. Molecular analysis of tumor tissue will allow us to identify patients with the added benefit of new therapeutic agents and provide a better insight into melanoma pathogenesis and its biological behavior.

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Late Solitary Extraocular Recurrence From Previously Resected Iris Melanoma

Cited by 10 publications

References 35 publications

Partial lamellar sclerouvectomy surgery for anteriorly located uveal tumour resection: a 20-year experience

Partial lamellar sclerouvectomy surgery for anteriorly located uveal tumour resection: a 20-year experience

Genetic Profiling of Primary Orbital Melanoma

Genetic and Epigenetic Features of Uveal Melanoma—An Overview and Clinical Implications

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