Conjunctival and uveal melanoma: Survival and risk factors following orbital exenteration.

PURPOSE: This study aims to analyse disease-free survival, overall survival and risk factors after orbital exenteration in patients with conjunctival and uveal melanoma. METHODS: Patients who underwent orbital exenteration due to conjunctival and uveal melanoma were included in this retrospective study (March 2000 to March 2018). RESULTS: A total of 76 patients were enrolled in this study: 60 patients had a conjunctival melanoma and 16 had a uveal melanoma. In conjunctival melanoma, the mean age was 68.4 years. The overall survival rate was 82% after 1 year and 52% after 5 years. Univariate analysis of overall survival found that the following parameters were predictive of a worse prognosis: gender, extent of the primary tumour, lymph node metastases, distant metastases, adjuvant chemotherapy or radiotherapy and relapse. In multivariate analysis, relapse and adjuvant radiotherapy appeared to contribute to a significantly worse prognosis. In uveal melanoma, the mean age was 63.6 years. Eleven patients died during follow-up (mean follow up 30.7 months). The overall survival and disease-free survival rates after 1 year were 62% and 57%, respectively. An analysis of risk factors was not possible due to the small number of cases. CONCLUSION: Orbital exenterations in conjunctival and uveal melanoma are rarely necessary, but can be performed as an ultima ratio treatment with curative intent. Disease-free survival and overall survival are significantly lower for both groups due to the advanced stage of the disease compared to patients treated without exenteration in the literature. If a recurrence occurs after exenteration, the prognosis is poor in both groups.

Periorbital, conjunctival and primary intraorbital carcinomas: Survival and risk factors after orbital exenteration.

OBJECTIVES: This study aimed to analyse the disease-free survival (DFS), overall survival (OS) and risk factors after orbital exenteration in patients with periorbital, conjunctival and primary intraorbital carcinomas. METHODS: Patients undergoing orbital exenteration due to a primary carcinoma between March 2000 and March 2018 were included in this retrospective study. Risk factors in all the patients were evaluated using univariate and multivariate analyses. RESULTS: In total, 97 patients were enroled in this study. The most common tumours were conjunctival carcinoma (35 cases), squamous cell carcinoma of the skin (27 cases) and basal cell carcinoma (20 cases). The median follow-up period was 36 months. The average age of the patients was 67.3 years (range, 29-93 years). In all the patients, OS was 85% after 1 year and 69% after 5 years, while DFS was 71% after 1 year and 55% after 5 years. Univariate analysis of OS revealed that the following parameters were predictive of a poor prognosis: localisation, neck dissection, lymph node metastases, lymphatic invasion, perineural invasion, resection margins and immunosuppression. Multivariate analysis revealed resection margins as the only independent risk factor. CONCLUSION: Orbital exenteration is rarely necessary in patients with periorbital, conjunctival and primary intraorbital carcinomas; however, it can be performed as an ultima ratio treatment with a curative intent. Clear margins can be achieved in most cases. OS and DFS are not significantly different in the subgroups. In most cases, recurrence occurs within the first 2 years.

GNAQ Q209R Mutations Are Highly Specific for Circumscribed Choroidal Hemangioma.

Several tumors, including uveal melanoma, show somatic mutations of GNAQ/GNA11. Circumscribed choroidal hemangioma is a benign tumor that becomes symptomatic in adulthood. In some patients, morphologic examination of biopsies is required for differential diagnosis between amelanotic choroidal melanoma and circumscribed choroidal hemangioma. Here, we report the results of GNAQ/GNA11 mutation analysis in samples from circumscribed choroidal hemangioma. Deep amplicon sequencing (Illumina MiSeq, San Diego, CA, USA) of positions R183 and Q209 of GNAQ and GNA11 in tissue samples from 33 patients with histologically diagnosed circumscribed choroidal hemangioma. All patients underwent biopsy or enucleation at our clinic between 2008 and 2018. To enable detection of variant alleles at low fractions, read depth exceeded 15,000-fold. DNA for genetic analysis was prepared from either snap-frozen (n = 22) or FFPE (n = 11) tissue samples. Samples from 28/33 patients (85%) showed a somatic missense mutation of GNAQ (c.626 A > G) predicted to result in p.Q209R. Variant allele fraction was variable (range 2.3% to 28%). Variants of GNAQ resulting in p.Q209 are characteristic for circumscribed choroidal hemangiomas. It appears that the GNAQ mutation spectrum in this tumor is narrow, possibly restricted to p.Q209R. Moreover, the spectrum is distinct from that of uveal melanoma, in which alterations resulting in p.Q209R are very rare.