Monosomy 3 in Uveal Melanoma: Correlation with Clinical and Histologic Predictors of Survival

Scholes, Andrea G. M.; Damato, Bertil; Nunn, Janice; Hiscott, Paul; Grierson, Ian; Field, John K.

doi:10.1167/iovs.02-0159

Cited by 217 publications

(164 citation statements)

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“…In our study, monosomy 3 was detected in 38% of the epithelioid/mixed cell types (Table 5). This was not shown to be statistically significant by Fisher exact test, differing from the results of others 16,17,23 who reported a strong correlation between monosomy 3 and epithelioid/mixed cell types. The CISH assay detected monosomy 3 in 29% of the 48 cases (epithelioid, mixed, and spindle cell types) in this study.…”

Section: Commentcontrasting

confidence: 99%

“…Both monosomy 3 analysis using the microsatellite DNA assay and transcriptome profiling have been successfully performed in fine-needle biopsy uveal melanoma specimens taken prior to radiotherapy, and CISH has been shown to work successfully on fine-needle biopsies from breast and lung cancer patients. [28][29][30][31] Previous studies 16,17,23 have shown epithelioid cells to correlate with loss of 1 copy of chromosome 3. In our study, monosomy 3 was detected in 38% of the epithelioid/mixed cell types (Table 5).…”

Section: Commentmentioning

confidence: 99%

“…[15][16][17][18] The dual aim of this study is to adapt the CISH technique to tumor imprints and to lower turnaround time and the costs involved for determining chromosome 3 status in uveal melanoma. Concordance of CISH with 2 current established techniques, FISH and single-nucleotide polymorphism (SNP) array, is evaluated and this method of tumor sampling for the determination of chromosome 3 alterations in uveal melanoma is also discussed.…”

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Evaluation of Chromogenic In Situ Hybridization for the Determination of Monosomy 3 in Uveal Melanoma

Gleeson

Larkin

Horgan

et al. 2014

Archives of Pathology &Amp; Laboratory Medicine

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Context.-Loss of 1 copy of chromosome 3 is considered a significant indicator of metastatic dissemination in uveal melanoma. Fresh or paraffin-embedded tumor tissue is most commonly used for current cytogenetic techniques for determining chromosome 3 status in uveal melanoma and often requires referral to an external specialist laboratory for analysis.Objectives.-To assess the chromogenic in situ hybridization assay for detecting chromosome 3 alterations using frozen tumor imprints and to compare the results obtained with those obtained by standard fluorescence in situ hybridization or single-nucleotide polymorphism array techniques.Design.-Chromogenic in situ hybridization was performed on 52 frozen uveal melanoma tumor imprints. The genetic status of 26 of the 52 cases had been determined previously by fluorescence in situ hybridization (group 1); the status of 26 cases had been determined using singlenucleotide polymorphism array (group 2).Results.-Chromogenic in situ hybridization was successfully performed on 48 of 52 tumor imprints. Chromogenic in situ hybridization showed excellent agreement in all 24 cases determined by fluorescence in situ hybridization (100% concordance; j ¼ 1; P , .001; 95% confidence interval, 100%-100%), and disagreed in 4 of the 24 cases previously studied by single-nucleotide polymorphism array (83% concordance; j ¼ 0.67; P , .001; 95% confidence interval, 95%-39%). All 4 discordant cases were classified as disomic for chromosome 3 by chromogenic in situ hybridization and monosomic by SNP array. On histologic examination, the 4 discordant cases corresponded to 2 mixed cell tumors and 2 spindle cell tumors.Conclusions.-Chromogenic in situ hybridization using tumor imprints is a reliable technique for determining chromosome 3 status in uveal melanoma. Furthermore, it can also be easily integrated into a routine histopathology laboratory.

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Section: Commentcontrasting

confidence: 99%

Section: Commentmentioning

confidence: 99%

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Evaluation of Chromogenic In Situ Hybridization for the Determination of Monosomy 3 in Uveal Melanoma

Gleeson

Larkin

Horgan

et al. 2014

Archives of Pathology &Amp; Laboratory Medicine

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“…Starting a little over a decade ago, investigators around the world began to report that chromosomal and transcriptional features of primary uveal melanoma cells were strongly associated with the pa tient's likelihood of developing subsequent extraophthalmic metastasis and metastatic death (25,(29)(30)(31)(32)(33)(34)(35) Several authors have shown that these chromosomal and transcriptional features can be determined on tumor specimens obtained by FNAB changing the indication for FNAB from purely diagnostic to investigational-prognostic (24,25,(36)(37)(38) . During the past few years, investigators from several of these centers have reported their experience with cytogenetic testing of the obtained FNAB aspirates (25,27,35,37,(39)(40)(41) .…”

Section: Prognostic Implications Of Cytopathologic Classification Of mentioning

confidence: 99%

Prognostic implications of cytopathologic classification of melanocytic uveal tumors evaluated by fine-needle aspiration biopsy

Augsburger¹,

Corrêa²,

Trichopoulos³

2013

Arq. Bras. Oftalmol.

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Purpose: Determine whether cytopathologic classification of melanocytic uveal tumors evaluated by fine-needle aspiration biopsy (FNAB) is a significant prognostic factor for death from metastasis. Methods: Retrospective analysis of cases of clinically diagnosed uveal melanoma evaluated by fine-needle aspiration biopsy from 1980 to 2006. Main outcome evaluated was death from metastasis. Associations between baseline clinical variables and cytopathologic classification were evaluated using cross-tabulation. Prognostic significance of cytopathologic classification was evaluated by Ka planMeier and Cox proportional hazards analysis. Results: Of 302 studied biopsies, 260 (86.1%) yielded sufficient cells for cytopathologic classification. Eighty of the 260 patients who had a sufficient specimen have already died (P=0.021), 69 from metastatic uveal melanoma. Cell type assigned by cytopathology was strongly associated with metastasis/metastatic death in this series (P=0.0048). Multivariate analysis showed cytopathologic classification to be an independently significant prognostic factor for metastatic death (P=0.0006). None of the 42 patients whose tumor yielded insufficient aspirates (sampled in at least two sites) have developed metastasis or died of metastasis thus far. Conclusion: In this series, cytopathology of fine-needle aspiration biopsy samples obtained from uveal melanomas was strongly prognostic of death from metastasis. Insufficiently aspirates (2 or more sites sampled) proved to be prognostic of a favorable outcome (i.e., not developing metastasis). Keywords

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“…12,13 The histological detection of looping vasculogenic mimicry patterns has been associated with an aggressive clinical course in multiple independent studies. [14][15][16][17][18][19] The presence of these patterns is associated with monosomy 3 20 (a cytogenetic marker of aggressive uveal melanoma behavior 20,21 ) and a gene expression signature that is associated with the development of metastatic uveal melanoma. 22 The clinical detection of these patterns by confocal ICG angiography has been associated with the eventual growth of small and indeterminate posterior choroidal melanocytic lesions.…”

Section: Introductionmentioning

confidence: 99%

Demonstrating circulation in vasculogenic mimicry patterns of uveal melanoma by confocal indocyanine green angiography

Frenkel

Barzel

Levy

et al. 2007

Eye

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Purpose Vasculogenic mimicry patterns, formed by highly invasive melanoma cells, connect to endothelial cell-lined blood vessels and contain fluid in vitro and in vivo. This study was designed to determine if fluid leaks into vasculogenic mimicry patterns without circulation, or if fluid circulates in and clears from these patterns. Methods Indocyanine green (ICG) laser scanning confocal angiography (Heidelberg Retinal Angiograph (HRA); Heidelberg Engineering, Heidelberg, Germany) was performed on nine patients with posterior choroidal melanoma in an institutional setting. Blood was drawn before the ICG injection and from the contralateral arm of the ICG injection site and 1 min after the injection. Outcome measures include time to first filling of retinal vessels and vasculogenic mimicry patterns and the time at which no fluorescence could be detected by the HRA instrument. After fluorescence was no longer detected in vessels or patterns, the tubes containing the patient's blood was imaged by the Heidelberg HRA. Results Looping vasculogenic mimicry patterns were detected focally in five patients within 30 s after injection and were detectable up to 12 min post-injection. Blood drawn before ICG injection did not autofluoresce but ICG-containing blood pooled in the tube continued to fluoresce at 1-month postinjection. Conclusions Vasculogenic mimicry patterns are not part of the endothelial cell-lined vascular system and fluid enters these patterns through leakage. The rapid infusion of ICG into these patterns after injection and the disappearance of fluorescence detectable by the Heidelberg HRA suggest that fluid circulates in these patterns and does not accumulate as a stagnant pool.

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Monosomy 3 in Uveal Melanoma: Correlation with Clinical and Histologic Predictors of Survival

Cited by 217 publications

References 10 publications

Evaluation of Chromogenic In Situ Hybridization for the Determination of Monosomy 3 in Uveal Melanoma

Evaluation of Chromogenic In Situ Hybridization for the Determination of Monosomy 3 in Uveal Melanoma

Prognostic implications of cytopathologic classification of melanocytic uveal tumors evaluated by fine-needle aspiration biopsy

Demonstrating circulation in vasculogenic mimicry patterns of uveal melanoma by confocal indocyanine green angiography

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