2019
DOI: 10.1016/j.ophtha.2018.12.047
|View full text |Cite
|
Sign up to set email alerts
|

Genetic Profiling of Primary Orbital Melanoma

Abstract: 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 … Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
1
1
1

Citation Types

0
5
0
1

Year Published

2020
2020
2023
2023

Publication Types

Select...
5
2

Relationship

0
7

Authors

Journals

citations
Cited by 11 publications
(11 citation statements)
references
References 30 publications
(30 reference statements)
0
5
0
1
Order By: Relevance
“…However, for large tumors, there is a presumption of micrometastatic disease at the time of diagnosis and previous estimates of metastatic spread describe a 5-year incidence of 38% with a propensity for the liver followed by the lung. 2,9,17 Previous case studies emphasize a variety of treatment recommendations including the importance of removing the lesion with the capsule undisturbed, the use of the total orbital exenteration, and removal of all conjunctival tissue or dural tissue, while others suggest the value of adjuvant radiotherapy. 3,9,13,16 The efficacy of orbital exenteration was assessed in a population of 95 uveal melanoma patients, which suggested there was no difference in mortality between those who received orbital exenteration first or secondarily after alternative treatment failure.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…However, for large tumors, there is a presumption of micrometastatic disease at the time of diagnosis and previous estimates of metastatic spread describe a 5-year incidence of 38% with a propensity for the liver followed by the lung. 2,9,17 Previous case studies emphasize a variety of treatment recommendations including the importance of removing the lesion with the capsule undisturbed, the use of the total orbital exenteration, and removal of all conjunctival tissue or dural tissue, while others suggest the value of adjuvant radiotherapy. 3,9,13,16 The efficacy of orbital exenteration was assessed in a population of 95 uveal melanoma patients, which suggested there was no difference in mortality between those who received orbital exenteration first or secondarily after alternative treatment failure.…”
Section: Discussionmentioning
confidence: 99%
“…POM has been diagnosed in all ages from the pediatric population to the elderly, with or without congenital anomalies, and with both indolent as well as extremely aggressive disease courses. [12][13][14][15][16][17][18] The treatment approaches include some combination of surgery, such as orbital exenteration or debulking, radiation, and chemotherapy. However, the choice of orbital exenteration for POM is grounded in observation from uveal melanoma and survival benefits between possible treatment sequences has only recently been explored.…”
Section: Introductionmentioning
confidence: 99%
“…19 In UM, SOX10 was expressed in a panel of ocular primary tumors where its assessment may help to differentiate it from other neoplasms and benign choroidal nevi. [20][21][22] However, it is widely unknown whether SOX10 or other neural crest factors in UM also exert functions similar to those in cutaneous melanoma. To address this question, we will analyze the expression of SOX10 and other neural crest transcription factors in patient-derived bio-specimens and UM cell lines.…”
Section: Research In Clinical Practicementioning
confidence: 99%
“…In particular, the transcription factor SOX10 is highly expressed in congenital nevi and melanoma and is functionally important for cell proliferation and tumor initiation in interaction with other oncogenic factors such as NRAS 19 . In UM, SOX10 was expressed in a panel of ocular primary tumors where its assessment may help to differentiate it from other neoplasms and benign choroidal nevi 20–22 . However, it is widely unknown whether SOX10 or other neural crest factors in UM also exert functions similar to those in cutaneous melanoma.…”
Section: Research In Clinical Practicementioning
confidence: 99%
“…GNAQ/GNA11 mutations are also found in benign precursor lesions such as congenital ocular melanocytosis and are believed to be initiating events in the pathogenesis of uveal melanoma. 91 The combination of chromosome 3 loss and biallelic inactivation mutations in the BAP1 gene (which encodes BRCA1associated protein 1) on chromosome 3p21 are strongly prognostic for aggressiveness and metastasis. Given the cost of BAP1 mutation analysis, immunohistochemical staining to evaluate BAP1 expression is a more economical practical alternative and gives faster results.…”
Section: Cytogeneticsmentioning
confidence: 99%