Prognosis of Uveal Melanoma in 500 Cases Using Genetic Testing of Fine-Needle Aspiration Biopsy Specimens

Shields, Carol L.; Ganguly, Arupa; Bianciotto, Carlos; Turaka, Kiran; Tavallali, Ali; Shields, Jerry A.

doi:10.1016/j.ophtha.2010.05.023

Cited by 177 publications

(92 citation statements)

References 20 publications

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“…Current trials are investigating the therapeutic effectiveness of MEK and PKC inhibitors [29]. Already routinely performed for uveal melanoma is the detection of chromosomal aberration (especially chromosome 3 loss and chromosome 8 gain) with high predictive value for prognosis in uveal melanoma and metastasization [9,30,31]. …”

Section: Discussionmentioning

confidence: 99%

Noncutaneous Melanomas: A Single-Center Analysis

Prete¹,

Chaloupka²,

Holzmann³

et al. 2015

Dermatology

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Background: The optimal treatment algorithm for noncutaneous melanomas must yet be established. Objective: To compare systemic treatment-relevant mutational status, metastatic pattern and response to systemic treatment in noncutaneous melanoma. Methods: Retrospective single-center study analyzing 64 noncutaneous melanoma patients treated between January 2006 and September 2013. Results: c-KIT mutations were found exclusively in vulvovaginal melanoma (4/7). Overall status for NRAS and BRAF mutations was low (1/7 and 0/21 detected mutations, respectively). Seven out of 7 vulvovaginal and 6/13 sinonasal melanomas first metastasized to lymph nodes, whereas 18/22 ocular melanomas first metastasized to the liver. Response to systemic treatment in vulvovaginal melanomas was best for imatinib with a disease control rate of 3/3 and overall for ipilimumab with a disease control rate of 3/10. Sorafenib was associated with adverse drug reactions (6/13) and poor results. Conclusion: Noncutaneous melanomas show few tumor-signaling pathway mutations and distinct metastasization patterns. Immunotherapy induces response rates in mucosal melanoma similar to those in cutaneous melanoma.

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Section: Discussionmentioning

confidence: 99%

Noncutaneous Melanomas: A Single-Center Analysis

Prete¹,

Chaloupka²,

Holzmann³

et al. 2015

Dermatology

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“…Molecular prognostic biopsy for metastatic risk in the management of patients with uveal melanoma is standard of care at most major ophthalmic oncology practices in North America [1,2,3,4,5,6,7,8]. The loss of 1 copy of chromosome 3 (monosomy 3 [M3]) in the tumor tissue has been determined to be the risk factor most strongly associated with metastatic death originally reported in mostly large uveal melanoma [9,10,11].…”

Section: Introductionmentioning

confidence: 99%

Comparison of Gene Expression Profiling and Chromosome 3 Analysis by Fluorescent in situ Hybridization and Multiplex Ligation Probe Amplification in Fine-Needle Aspiration Biopsy Specimens of Uveal Melanoma

et al. 2017

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Purpose: The aim of this paper was to assess the concordance between results of DecisionDx-UM specific gene expression profiling (GEP) and fluorescence in situ hybridization (FISH) for chromosome 3 analysis, and between DecisionDx-UM GEP and multiplex ligation probe amplification (MLPA) in uveal melanoma undergoing intraoperative fine-needle aspiration biopsy (FNAB) for metastatic prognostication during brachytherapy. Methods: We retrospectively reviewed consecutive patients diagnosed with posterior uveal melanoma who underwent intraoperative FNAB prior to placement of an iodine-125 radioactive plaque between 2012 and 2014. Two cohorts of patients were identified: Cohort 1 - tumors in which both GEP and FISH results were obtained, and Cohort 2 - tumors in which both GEP and MLPA results were obtained. Results: Forty-four patients were identified for Cohort 1. FISH and GEP results were discordant in 7 tumors (15.9%). Forty-three patients were identified for Cohort 2. MLPA and GEP were discordant in 7 tumors (16.3%). Conclusions: Discordance between GEP and chromosome 3 status by FISH and MLPA occurred in our series at a rate of 15.9 and 16.3%, respectively. Caution must be advised when counseling a patient with a good-prognosis GEP “Class 1” result that the uveal tumor may actually harbor monosomy 3, which is associated with a poor prognosis for metastasis in nearly 20% of the patients.

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“…FNAB of uveal melanomas is generally accepted to be a safe procedure with a low risk of complications [3, 4, 17, 18]. However, there are a few rare case reports in the literature of extrascleral tumor extension after FNAB [19-21].…”

Section: Discussionmentioning

confidence: 99%

“…Diagnosis is typically based on findings from the clinical exam and additional imaging tests, such as ultrasound and fluorescein angiography [2]. However, fine-needle aspiration biopsy (FNAB) is now commonly performed to obtain tissue sample for cytogenetic testing and gene expression profiling, which can help assess risk for metastasis [3, 4]. Treatment of uveal melanoma usually consists of plaque brachytherapy and enucleation [5].…”

Section: Introductionmentioning

confidence: 99%

Scleral Thinning after Transscleral Biopsy for Uveal Melanoma Using Lamellar Scleral Flap

Siegel¹,

Szalai²,

Wells³

et al. 2018

Ocul Oncol Pathol

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Purpose: The purpose of the study is to describe the clinical history and histopathologic findings of three cases of scleral thinning after lamellar scleral flap, including one case with confirmed extraocular tumor extension. Methods: The medical records and pathology specimens of three patients with scleral thinning after biopsy and plaque brachytherapy and lamellar scleral flap performed during a transscleral biopsy were reviewed. Results: The first two patients developed scleral thinning and visible pigmentation, but had tumors that were regressing in size on ultrasound. The two patients were followed by serial observation. The third patient exhibited scleral thinning and evidence of tumor growth on ultrasound, raising the suspicion for extraocular tumor extension. Histopathologic examination of the enucleated eye confirmed extrascleral tumor extension and showed necrotic and intact melanoma with associated pigmented macrophages. Conclusions: Patients with scleral flaps created for biopsy of uveal melanoma are at risk for scleral thinning and extrascleral extension of tumor recurrence through the flap.

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Prognosis of Uveal Melanoma in 500 Cases Using Genetic Testing of Fine-Needle Aspiration Biopsy Specimens

Cited by 177 publications

References 20 publications

Noncutaneous Melanomas: A Single-Center Analysis

Noncutaneous Melanomas: A Single-Center Analysis

Comparison of Gene Expression Profiling and Chromosome 3 Analysis by Fluorescent in situ Hybridization and Multiplex Ligation Probe Amplification in Fine-Needle Aspiration Biopsy Specimens of Uveal Melanoma

Scleral Thinning after Transscleral Biopsy for Uveal Melanoma Using Lamellar Scleral Flap

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