Top

Graefe's Archive for Clinical and Experimental Ophthalmology

Published in:

01-04-2008 | Oncology

In vivo monosomy 3 detection of posterior uveal melanoma: 3-year follow-up

Authors: Edoardo Midena, Laura Bonaldi, Raffaele Parrozzani, Pietro P. Radin, Barbara Boccassini, Stela Vujosevic

Published in: Graefe's Archive for Clinical and Experimental Ophthalmology | Issue 4/2008

Abstract

Background

Monosomy 3 is a highly specific marker for poor prognosis in posterior uveal melanoma. Unfortunately, cytogenetic prognostication is limited to enucleated eyes or resected tumors. The aim of this study was to evaluate mid-term natural history and safety of in vivo detection of chromosome 3 status in posterior uveal melanomas undergoing plaque brachytherapy.

Methods

A 25-gauge transscleral fine needle aspiration biopsy (FNAB) was performed in 32 eyes affected by posterior uveal melanoma undergoing plaque brachytherapy, just before applying the radioactive plaque. Sampled material underwent fluorescence in situ hybridization (FISH) with centromeric probes for chromosome 3. All patients had a follow-up of at least 36 months.

Results

Mean follow-up was 47.1 ± 8.5 months. Mean largest basal diameter and mean thickness of the tumors were 12.5 ± 2.7 mm and 8 ± 2.3 mm respectively. FNAB yielded sufficient material in 26 of 32 cases (81.2%). Adequacy of the sample ranged from 91.1% (ciliary body tumors) to 76.8% (choroidal tumors). Seventeen cases had monosomy 3 (65.3%). No correlation was found between monosomy 3 and tumor dimensions or location (ciliary body vs choroidal tumors). No early and mid-term local complications were documented. Seven patients (21.8%) died during follow-up: five (15.6%) of them died due to metastatic disease (all had monosomy 3 tumors).

Conclusions

Posterior uveal melanomas may be adequately and safely sampled, by intra-operative transscleral FNAB, to detect in vivo monosomy 3.

Seregard S (1996) Posterior uveal melanoma. Acta Ophthalmol Scand 74:315–329PubMedCrossRef

Naus NC, Verhoeven ACA, van Drunen E, Slater R, Mooy CM, Paridaens DA, Luyten GP, de Klein A (2002) Detection of genetic prognostic markers in uveal melanoma biopsy using fluorescence in situ hybridization. Clin Cancer Res 8:534–539PubMed

Gamel JW, McLean IW, McCurdy JB (1993) Biologic distinctions between cure and time to death in 2892 patients with intraocular melanoma. Cancer 119:786–791

Kujala E, Kivela T (2005) Tumor, node, metastasis classification of malignant ciliary body and choroidal melanoma evaluation of the 6th edition and future directions. Ophthalmology 112:1135–1144PubMedCrossRef

Schmittel A, Bechrakis NE, Martus P, Mutlu D, Sheibenbogen C, Bornfeld N, Foerster MH, Thiel E, Keilholz U (2004) Independent prognostic factors for distant metastases and survival in patients with primary uveal melanoma. Eur J Cancer 40:2389–2395PubMedCrossRef

Gambrelle J, Labialle S, Dayan G, Gayet L, Barakat S, Grange JD, Baggetto LG (2004) Toward monosomy 3 as the main prognosis factor of uveal melanoma: current cytogenetic data. J Fr Ophtalmol 27:1061–1067PubMedCrossRef

Kilic E, Naus NC, van Gils W, Claver CC, van Til ME, Verbiest MM, Stijnen T, Mooy CM, Paridaens D, Beverloo HB, Luyten GP, de Klein A (2005) Concurrent loss of chromosome arm 1p and chromosome 3 predicts a decreased disease-free survival in uveal melanoma patients. Invest Ophthalmol Vis Sci 46:2253–2257PubMedCrossRef

Scholes AGM, Damato BE, Nunn J, Hiscott P, Grierson I, Field JK (2003) Monosomy 3 in uveal melanoma: correlation with clinical and histologic predictors of survival. Invest Ophthalmol Vis Sci 44:1008–1011PubMedCrossRef

Höglund M, Gisselsson D, Hansen GB, White VA, Sall T, Mitelman F, Horsman D (2004) Dissecting karyotypic patterns in malignant melanomas: Temporal clustering of losses and gains in melanoma karyotypic evolution. Int J Cancer 108:57–65PubMedCrossRef

10.

Sisley K, Rennie IG, Cottam DW, Potter AM, Potter CW, Rees RC (1990) Cytogenetic findings in six posterior uveal melanomas: involvement of chromosomes 3, 6 and 8. Genes Chromosomes Cancer 2:205–209PubMedCrossRef

11.

Sandinha M, Farquharson M, Mckay I, Roberts F (2005) Monosomy 3 predicts death but not time to death in choroidal melanoma. Invest Ophthalmol Vis Sci 46:1497–1501CrossRef

12.

Onken M, Worley L, Ehlers J, Arbour JW (2004) Genes expression profiling reveals two molecular classes and predict metastatic death. Cancer Res 64:7205–7209PubMedCrossRef

13.

Prescher G, Bornfeld N, Becher R (1990) Non-random chromosomal abnormalities in primary uveal melanoma. J Natl Cancer Inst 82:1765–1769PubMedCrossRef

14.

Sisley K, Cottam DW, Rennie IG, Parson MA, Potter AM, Potter CW, Rees RC (1992) Non-random abnormalities of chromosomes 3, 6, and 8 associated with posterior uveal melanoma. Genes Chromosomes Cancer 5:197–200PubMedCrossRef

15.

Sisley K, Tattersall N, Dyson M, Smith K, Mudhar H, Rennie I (2006) Multiplex fluorescence in situ hybridization identifies novel rearrangements of chromosome 6, 15, and 18 in primary uveal melanoma. Exp Eye Res 83:554–559PubMedCrossRef

16.

Tschentscher F, Hüsing J, Hölter T, Kruse E, Dresen IG, Jockel KH, Anastassiou G, Schilling H, Bornfeld N, Horsthemke B, Lohmann DR, Zeschnigk M (2003) Tumor classification based on gene expression profiling shows that uveal melanomas with and without monosomy 3 represent two distinct entities. Cancer Res 63:2578–2584PubMed

17.

Sisley K, Nichols C, Parsons MA, Farr R, Rees RC, Rennie IG (1998) Clinical applications of chromosome analysis, from fine needle aspiration biopsies, of posterior uveal melanomas. Eye 12:203–207PubMed

18.

Midena E, Bonaldi L, Parrozzani R, Tebaldi E, Boccassini B, Vujosevic S (2006) In vivo detection of monosomy 3 in eyes with medium-sized uveal melanoma using transscleral fine needle aspiration biopsy. Euro J Ophthalmol 16:422–425

19.

Prescher G, Bornfeld N, Hirche H, Horsthemke B, Jockel KH, Becher R (1996) Prognostic implications of monosomy 3 in uveal melanoma. Lancet 347:1222–1225PubMedCrossRef

20.

Kvanta A, Seregard S, Kopp ED, All-Ericsson C, Landau I, Berglin L (2005) Choroidal Biopsies for intraocular tumors of indeterminate origin. Am J Ophthalmology 140:1002–1006CrossRef

21.

Shields JA, Shields CL, Ehya H, Eagle RCJ, De Potter P (1993) Fine-needle aspiration biopsy of suspected intraocular tumors. The 1992 Urwick Lecture. Ophthalmology 100:1677–1684PubMed

22.

Caminal JM, Sanz S, Carreras M, Català I, Arruga J, Rocca G (2006) Epibulbar seeding at the site of a transvitreal fine-needle aspiration biopsy. Arch Ophthalmology 124:587–589CrossRef

23.

Shields CL, Ganguly A, Materin MA, Teixeira L, Mashayekhi A, Swanson LA, Marr BP, Shields JA (2007) Chromosome 3 analysis of uveal melanoma using fine-needle aspiration biopsy at the time of plaque radiotherapy in 140 consecutive cases. Arch Ophthalmol 125:1017–1024PubMedCrossRef

24.

Sen J, Groenewald C, Hiscott P, Smith P, Damato B (2006) Transretinal choroidal tumor biopsy with a 25-gauge vitrector. Ophthalmology 113:1028–1031PubMedCrossRef

25.

Sandinha T, Farquharson M, McKay I, Roberts F (2006) Correlation of Hetergeneity for chromosome 3 copy number with cell type in choroidal melanoma of Mixed-cell type. Invest Ophthalmol Vis Sci 47:5177–5180PubMedCrossRef

26.

Maat W, Jordanova ES, van Zelderen-Bhola SL, Barthen ER, Wessels HW, Schalij-Delfos NE, Jager MJ (2007) The heterogeneous distribution of monosomy 3 in uveal melanomas: implications for prognostication based on fine-needle aspiration biopsies. Arch Pathol Lab Med 131:91–96PubMed

27.

Meir T, Zeschnigk M, Masshofer L, Pe’er J, Chowers I (2007) The spatial distribution of monosomy 3 and network vasculogenic mimicry patterns in uveal melanoma. Invest Ophthalmol Vis Sci 48:1918–1922PubMedCrossRef

28.

Onken MD, Worley LA, Parson E, Char HD, Bowcock AM, Harbour JW (2007) Prognostic testing in uveal melanoma by trancriptomic profiling of fine needle biopsy specimens. Clin Cancer Res 13:2923–2927PubMedCrossRef

29.

Worley LA, Onken MD, Parson E, Robirds D, Branson J, Char DH, Perry A, Harbour JW (2007) Transcriptomic versus chromosomal prognostic markers and clinical outcome in uveal melanoma. Clin Canc Res 13:1466–1471CrossRef

30.

Sisley K, Rennie IG, Parsons MA, Jacques R, Hammond DW, Bell SM, Potter AM, Rees RC (1997) Abnormalities of chromosomes 3 and 8, in posterior uveal melanoma, correlate with prognosis. Genes Chromosom Cancer 19:22–28PubMedCrossRef

31.

Collaborative Ocular Melanoma Study Group (2001) Report No. 26. Development of metastatic disease after enrollment in the COMS trials for treatment of choroidal melanoma. Arch Ophthalmol 119:961–965

32.

Aalto Y, Eriksson L, Seregard S, Larsson O, Knuutila S (2001) Concomitant loss of chromosome 3 and whole arm losses and gains of chromosome 1, 6, or 8 in metastasizing primary uveal melanoma. Invest Ophthalmol Vis Sci 42:313–317PubMed

33.

Hughes S, Damato BE, Giddings I, Hiscott PS, Humphreys J, Houlston RS (2005) Microarray comparative genomic hybridisation analysis of intraocular uveal melanomas identifies distinctive imbalances associated with loss of chromosome 3. Br J Cancer 93:1191–1196PubMedCrossRef

34.

Tschentscher F, Prescher G, Zeschnigk M, Horsthemke B, Lohmann DT (2000) Identification of chromosome 3, 6, and 8 aberrations in uveal melanoma by microsatellite analysis in comparison to comparative genomic hybridization. Cancer Genet Cytogenet 122:13–17PubMedCrossRef

35.

Worley LA, Onken MD, Person E, Robirds D, Branson J, Char DH, Perry A, Harbour JW (2007) Transcriptomic versus chromosomal prognostic markers and clinical outcome in uveal melanoma. Clin Cancer Res 13:1466–1471PubMedCrossRef

36.

Onken MD, Worley LA, Person E, Char DH, Bowcock AM, Harbour JW (2007) Loss of Heterozygosity of chromosome 3 detected with single nucleotide polymorphisms is superior to monosomy 3 for predicting metastasis in uveal melanoma. Clin Cancer Res 13:2923–2927PubMedCrossRef

Title: In vivo monosomy 3 detection of posterior uveal melanoma: 3-year follow-up
Authors: Edoardo Midena
Laura Bonaldi
Raffaele Parrozzani
Pietro P. Radin
Barbara Boccassini
Stela Vujosevic
Publication date: 01-04-2008
Publisher: Springer-Verlag
Published in: Graefe's Archive for Clinical and Experimental Ophthalmology / Issue 4/2008
Print ISSN: 0721-832X
Electronic ISSN: 1435-702X
DOI: https://doi.org/10.1007/s00417-007-0692-4

Keynote webinar | Spotlight on medication adherence

Springer Medicine

In vivo monosomy 3 detection of posterior uveal melanoma: 3-year follow-up

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

Please log in to get access to this content

Other articles of this Issue 4/2008

Sera of glaucoma patients show autoantibodies against myelin basic protein and complex autoantibody profiles against human optic nerve antigens

Correlation between ocular pulse amplitude measured by dynamic contour tonometer and visual field defects

Long-term results of amniotic membrane transplantation-assisted bleb revision for leaking blebs

Dose–response relationship in inferior oblique muscle recession

Increased retinal toxicity of intravitreal tissue plasminogen activator in a central retinal vein occlusion model

Immune Response and the Eye: 2nd, revised edition. J.Y. Niederkorn, H.J. Kaplan (Editors)