Non‐random abnormalities of chromosomes 3, 6, and 8 associated with posterior uveal melanoma

Sisley, Karen; Cottam, David W.; Rennie, I G; Parsons, M A; Potter, A. M.; Potter, C. W.; Rees, Robert C.

doi:10.1002/gcc.2870050304

Cited by 95 publications

(53 citation statements)

References 17 publications

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“…This reflects the greater sensitivity of array CGH. Previous reports have stated that the most frequent anomaly in UVM is loss of an entire copy of chromosome 3 (Sisley et al, 1992;Wiltshire et al, 1993;White et al, 1998). In our analysis, however, the most common chromosomal changes identified were 8q gains (14/18; 78, 95% confidence interval: 52 -94%), 6p gains (12/18; 78, 95% confidence interval: 41 -87%), and monosomy 3 (10/18; 56, 95% confidence interval: 31 -78%).…”

Section: Resultsmentioning

confidence: 99%

Microarray comparative genomic hybridisation analysis of intraocular uveal melanomas identifies distinctive imbalances associated with loss of chromosome 3

et al. 2005

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Defining regions of genomic imbalance can identify genes involved in tumour development. Conventional cytogenetics has identified several nonrandom copy number alterations (CNA) in uveal melanomas (UVM), which include monosomy 3, chromosome 6 abnormalities and gain of 8q. To gain further insight into the CNAs and define the regions involved more precisely we analysed 18 primary UVMs using 1 Mb BAC microarray comparative genomic hybridisation (CGH). Our analysis showed that the most common genomic imbalances were 8q gain (78%), 6p gain (67%) and monosomy 3 (56%). Two distinct CGH profiles could be delineated on the basis of the chromosome 3 status. The most common genetic changes in monosomy 3 tumours, in our study, were gain of 8q11.21 -q24.3, 6p25.1 -p21.2, 21q21.2 -q21.3 and 21q22.13 -q22.3 and loss of 1p36. 33 -p34.3, 1p31.1 -p21.2, 6q16.2 -q25.3 and 8p23.3 -p11.23. In contrast, disomy 3 tumours showed recurrent gains of only 6p25.3 -p22.3 and 8q23.2 -q24.3. Our approach allowed definition of the smallest overlapping regions of imbalance, which may be important in the development of UVM.

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Section: Resultsmentioning

confidence: 99%

Microarray comparative genomic hybridisation analysis of intraocular uveal melanomas identifies distinctive imbalances associated with loss of chromosome 3

et al. 2005

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“…Cases Som 10,11,17,22,30 and 35 were presented in Sisley et al (1990), cases Som 36,37,47,52,53,57,59,60,61,62 and 63, were detailed in Sisley et al (1992) and cases Som 95 and 140 reported in Tappin et al (1996). The significance of chromosome 3 and 8 abnormalities in the series of 42 patients has been considered separately (Sisley et al, 1997).…”

Section: Resultsmentioning

confidence: 99%

Association of specific chromosome alterations with tumour phenotype in posterior uveal melanoma

Sisley

Parsons

Garnham³

et al. 2000

Br J Cancer

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Posterior uveal melanomas have recurrent alterations of chromosomes 1, 3, 6 and 8. In particular, changes of chromosomes 3 and 8 occur in association, appear to characterize those tumours with a ciliary body component, and have been shown to be of prognostic significance. The relevance of other chromosome alterations is less certain. We have performed cytogenetic analysis on 42 previously untreated primary posterior uveal melanomas. Of interest was the observation that as tumour size increased the involvement of specific chromosome changes, and the amount of chromosome abnormalities likewise increased. Loss, or partial deletions, of the short arm of chromosome 1 were found to associate with larger ciliary body melanomas; typically, loss of the short arm resulted from unbalanced translocations, the partners of which varied. Trisomy of chromosome 21 occurred more often in ciliary body melanomas, whilst rearrangements of chromosomes 6 and 11 were primarily related to choroidal melanomas. Our results imply that alterations of chromosome 1 are important in the progression of some uveal melanomas, and that other chromosome abnormalities, besides those of chromosomes 3 and 8, are associated with ocular tumours of particular locations. © 2000 Cancer Research Campaign

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“…9 A major breakthrough was the observation that many uveal melanomas lack one copy of chromosome 3, and that these monosomic tumours are usually those that metastatise. 29,30 Simple determination of monosomy 3 is inaccurate, however, because the chromosomal defect can be masked by: (1) duplication of the remaining copy to produce isodisomy (both chromosomes then derive from the same parent); (2) partial chromosomal deletion, which can be missed by some methods; and (3) modulation of the risk of metastasis by other choromsomal errors, such as 6p gain and 8q gain. [31][32][33] At present, the method of choice for initial chromosomal analysis is multiple ligation probe amplification (MLPA), which probes multiple loci across several chromosomes.…”

Section: Prognosis Of the Primary Tumourmentioning

confidence: 99%

Prognostication in eye cancer: the latest tumor, node, metastasis classification and beyond

Kivelä

Kujala

2012

Eye

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The tumour, node, metastasis (TNM) classification is a universal cancer staging system, which has been used for five decades. The current seventh edition became effective in 2010 and covers six ophthalmic sites: eyelids, conjunctiva, uvea, retina, orbit, and lacrimal gland; and five cancer types: carcinoma, sarcoma, melanoma, retinoblastoma, and lymphoma. The TNM categories are based on the anatomic extent of the primary tumour (T), regional lymph node metastases (N), and systemic metastases (M). The T categories of ophthalmic cancers are based on the size of the primary tumour and any invasion of periocular structures. The anatomic category is used to determine the TNM stage that correlates with survival. Such staging is currently implemented only for carcinoma of the eyelid and melanoma of the uvea. The classification of ciliary body and choroidal melanoma is the only one based on clinical evidence so far: a database of 7369 patients analysed by the European Ophthalmic Oncology Group. It spans a prognosis from 96% 5-year survival for stage I to 97% 5-year mortality for stage IV. The most accurate criterion for prognostication in uveal melanoma is, however, analysis of chromosomal alterations and gene expression. When such data are available, the TNM stage may be used for further stratification. Prognosis in retinoblastoma is frequently assigned by using an international classification, which predicts conservation of the eye and vision, and an international staging separate from the TNM system, which predicts survival. The TNM cancer staging manual is a useful tool for all ophthalmologists managing eye cancer. Keywords: conjunctival malignancies; eyelid malignancies; orbital malignances; retinoblastoma; uveal melanomaThe tumour, node, metastasis (TNM) classification is a cancer staging system, which has been in worldwide use across all medical specialties for five decades. 1 It emerged in 1968 when the International Union Against Cancer published the first edition of its classification based on the anatomic extent of the tumour after testing a set of draft classifications for 23 cancer sites. None of these sites related to the eye.Indeed, eye cancer is a latecomer in the TNM classification, appearing for the first time in the fourth and fifth editions. 2 The first ophthalmic section covered six sites and five cancer types-carcinoma and melanoma of the eyelid and conjunctiva, melanoma of the uvea, retinoblastoma, sarcoma of the orbit, and carcinoma of the lacrimal gland-but these classifications were untested and were rarely used outside cancer registries.The ophthalmic section was revised for the sixth edition of TNM in 2002. 3 This edition was based on the published literature, but the classifications were not tested against clinical data. The revision received publicity 4 but did not make a breakthrough. Meanwhile, data were collected of other cancers to improve staging. For the updated TNM classification of cutaneous melanoma, data from over 20 000

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Non‐random abnormalities of chromosomes 3, 6, and 8 associated with posterior uveal melanoma

Cited by 95 publications

References 17 publications

Microarray comparative genomic hybridisation analysis of intraocular uveal melanomas identifies distinctive imbalances associated with loss of chromosome 3

Microarray comparative genomic hybridisation analysis of intraocular uveal melanomas identifies distinctive imbalances associated with loss of chromosome 3

Association of specific chromosome alterations with tumour phenotype in posterior uveal melanoma

Prognostication in eye cancer: the latest tumor, node, metastasis classification and beyond

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