Advances in conjunctival melanoma: clinical features, diagnostic modalities, staging, genetic markers, and management

Zeiger, Jennifer S; Lally, Sara E.; Dalvin, Lauren A; Shields, Carol L.

doi:10.1016/j.jcjo.2023.02.003

Cited by 2 publications

(6 citation statements)

References 55 publications

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“…Although rare in incidence, CM is a highly recurrent and potentially deadly cancer, and there is currently no consensus on the treatment of locally advanced or metastatic disease. Ongoing advances in our understanding of the genetic and molecular mechanisms involved in CM pathogenesis are therefore important as they increasingly yield new therapeutic targets and options [ 9 , 27 , 57 , 90 , 91 , 92 , 93 , 94 ]. Because of the overlapping genetic features between CMs and skin melanomas (and to a lesser extent between CMs and other mucosal melanomas), targeted therapies tested in those melanomas have also been increasingly applied to individual CM cases with locally advanced or metastatic disease [ 32 , 52 , 53 , 54 , 55 , 56 , 95 , 96 , 97 , 98 ], resulting in favorable outcomes in several cases.…”

Section: Discussionmentioning

confidence: 99%

Genetic Aspects of Conjunctival Melanoma: A Review

Chang,

Demirci,

Demirci

2023

Genes

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Conjunctival melanoma (CM) is a rare but aggressive cancer. Over the past decade, molecular studies using rapidly advancing technologies have increasingly improved our understanding of CM genetics. CMs are mainly characterized by dysregulated MAPK and PI3K/AKT/mTOR pathways, driven by commonly mutated (BRAF, NRAS, NF1) or less commonly mutated (KIT, PTEN) genes. Another group of genes frequently mutated in CMs include TERT and ATRX, with known roles in telomere maintenance and chromatin remodeling/epigenetic regulation. Uveal melanoma-related genes (BAP1, SF3B1, GNAQ/11) can also be mutated in CMs, albeit infrequently. Additional CM-related mutated genes have increasingly been identified using more comprehensive genetic analyses, awaiting further confirmation in additional/larger studies. As a tumor arising in a partly sun-exposed mucosal tissue, CM exhibits a distinct genomic profile, including the frequent presence of an ultraviolet (UV) signature (and high mutational load) and also the common occurrence of large structural variations (distributed across the genome) in addition to specific gene mutations. The knowledge gained from CM genetic studies to date has led to new therapeutic avenues, including the use of targeted and/or immuno-therapies with promising outcomes in several cases. Accordingly, the implementation of tumor genetic testing into the routine clinical care of CM patients holds promise to further improve and personalize their treatments. Likewise, a growing knowledge of poor prognosis-associated genetic changes in CMs (NRAS, TERT, and uveal melanoma signature mutations and chromosome 10q deletions) may ultimately guide future strategies for prognostic testing to further improve clinical outcomes (by tailoring surveillance and considering prophylactic treatments in patients with high-risk primary tumors).

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Section: Discussionmentioning

confidence: 99%

Genetic Aspects of Conjunctival Melanoma: A Review

Chang,

Demirci,

Demirci

2023

Genes

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“…Other locations of CoM are less common, but when present, they usually indicate a less optimistic prognosis. These locations include the caruncle, plica semilunaris, palpebral conjunctiva, and fornices [ 28 – 30 ]. In 30% of cases, the location can be multifocal [ 42 ].…”

Section: Introductionmentioning

confidence: 99%

“…The optimal strategy for treating all resectable CoM involves complete surgical excision with clear margins, ideally ranging from 2 to 4 mm. In cases of corneal involvement, this procedure can be complemented by additional alcohol corneal epitheliectomy [ 24 , 28 – 30 , 47 ]. For cases exhibiting diffuse, lateral, intraepithelial spread, or underlying PAM, the surgical excision is often combined with adjuvant therapies, such as brachytherapy, cryotherapy, and the local application of chemotherapeutic and/or immunotherapeutic agents (mitomycin C and interferon alfa-2-beta).…”

Section: Introductionmentioning

confidence: 99%

“…Residual or recurrent PAM is managed with excision, cryotherapy, or the application of topical mitomycin C. Employing a “no-touch” technique during surgery, using fresh, sterile instruments at each step, is essential to minimize the risk of tumor recurrence. Special care should be taken to handle samples minimally, placing them on a paper mount to prevent scrolling or distortions that could impact the accuracy of the diagnosis [ 11 , 24 , 28 – 30 ]. Closure is accomplished through primary conjunctival apposition or by employing rotary conjunctival flaps, mucosal grafts from the contralateral eye, buccal mucosa, or amniotic membrane transplants [ 30 ].…”

Section: Introductionmentioning

confidence: 99%

“…Special care should be taken to handle samples minimally, placing them on a paper mount to prevent scrolling or distortions that could impact the accuracy of the diagnosis [ 11 , 24 , 28 – 30 ]. Closure is accomplished through primary conjunctival apposition or by employing rotary conjunctival flaps, mucosal grafts from the contralateral eye, buccal mucosa, or amniotic membrane transplants [ 30 ]. In certain cases, for reconstructing the fornix, suture deepening or a symblepharon ring may be necessary [ 24 , 28 – 30 , 47 ].…”

Section: Introductionmentioning

confidence: 99%

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Biological characteristics and clinical management of uveal and conjunctival melanoma

KAŠTELAN,

PAVIČIĆ,

PAŠALIĆ

et al. 2024

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Uveal and conjunctival melanomas are relatively rare tumors; nonetheless, they pose a significant risk of mortality for a large number of affected individuals. The pathogenesis of melanoma at different sites is very similar, however, the prognosis for patients with ocular melanoma remains unfavourable, primarily due to its distinctive genetic profile and tumor microenvironment. Regardless of considerable advances in understanding the genetic characteristics and biological behaviour, the treatment of uveal and conjunctival melanoma remains a formidable challenge. To enhance the prospect of success, collaborative efforts involving medical professionals and researchers in the fields of ocular biology and oncology are essential. Current data show a lack of well-designed randomized clinical trials and limited benefits in current forms of treatment for these tumors. Despite advancements in the development of effective melanoma therapeutic strategies, all current treatments for uveal melanoma (UM) and conjunctival melanoma (CoM) remain unsatisfactory, resulting in a poor long-term prognosis. Ongoing trials offer hope for positive outcomes in advanced and metastatic tumors. A more comprehensive understanding of the genetic and molecular abnormalities involved in the development and progression of ocular melanomas opens the way for the development of personalized therapy, with various potential therapeutic targets currently under consideration. Increased comprehension of the molecular pathogenesis of UM and CoM and their specificities may aid in the development of new and more effective systemic therapeutic agents, with the hope of improving the prognosis for patients with metastatic disease.

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Advances in conjunctival melanoma: clinical features, diagnostic modalities, staging, genetic markers, and management

Cited by 2 publications

References 55 publications

Genetic Aspects of Conjunctival Melanoma: A Review

Genetic Aspects of Conjunctival Melanoma: A Review

Biological characteristics and clinical management of uveal and conjunctival melanoma

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