High-Resolution Array CGH Analysis Identifies Regional Deletions and Amplifications of Chromosome 8 in Uveal Melanoma

Hammond, David W.; Alshammari, Nawal; Danson, Sarah; Jacques, R; Rennie, I G; Sisley, Karen

doi:10.1167/iovs.14-16215

Cited by 15 publications

(18 citation statements)

References 34 publications

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“…Other recurrent alterations included deletion of chromosomes 1p (4/11 cases, 36%), 4q (3/11 cases, 27%), 16q (3/11 cases, 27%), 17q (3/11 cases, 27%), and gain of chromosome 21q (4/11 cases, 36%). Nonrecurrent alterations (r2 cases) were also found on chromosomes 2, 5,9,10,11,12,13,18,22, and X.…”

Section: Array Comparative Genomic Hybridizationmentioning

confidence: 97%

Melanomas Associated With Blue Nevi or Mimicking Cellular Blue Nevi

Costa

Byrne

Pissaloux

et al. 2016

American Journal of Surgical Pathology

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Melanomas associated with blue nevi (MABN) or mimicking cellular blue nevi (MMCBN) represent exceptional variants of malignant cutaneous melanocytic tumors. Uveal and leptomeningeal melanomas frequently have somatic mutations of GNAQ or GNA11, which are believed to be early driver mutations. In uveal melanomas, monosomy 3, linked to the BAP1 gene, is an adverse prognostic factor. We have studied the clinical, histologic, BAP1 expression profile, and molecular data of 11 cases of MABN/MMCBN and 24 cellular blue nevi. Most of the cases of MABN/MMCBN occurred on the scalps of adult patients and presented as rapidly growing nodules, typically >1 cm, often arising at the site of a preexisting melanocytic lesion. The MABN/MMCBN were composed of dense nests of large dermal atypical melanocytes, in some cases lying adjacent to a blue nevus. Four patients developed metastatic disease, and 2 died from their disease. A GNA11 mutation was found in 8/11 cases and a GNAQ mutation in 1 case. Seven of 11 cases showed loss of nuclear BAP1 immunohistochemical (IHC) expression in the malignant component, sparing the adjacent nevus. Array comparative genomic hybridization revealed recurrent deletions of chromosomes 1p, 3p, 4q, 6q, 8p, 16q, and 17q and recurrent gains of chromosomes 6p, 8q, and 21q. The 24 cases of cellular blue nevi frequently occurred on the sacrum, had GNAQ mutations, and showed normal positive IHC staining for BAP1. These results underscore overlapping features in all blue-like malignant melanocytic tumors. Loss of BAP1 IHC expression was restricted to melanomas, including all metastatic cases.

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Section: Array Comparative Genomic Hybridizationmentioning

confidence: 97%

Melanomas Associated With Blue Nevi or Mimicking Cellular Blue Nevi

Costa

Byrne

Pissaloux

et al. 2016

American Journal of Surgical Pathology

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“…The ratio of the main chromosomes alterations in patients were chromosome 1p-/q+ (40%), monosomy 3 (51%), chromosome 6p+ (40%), chromosome 8q+(75%) and chromosome 8p− (28%), after series of accuracy analysis they supposed the strongly prognostic indicator was gain of chromosome 8q together with monosomy 3 [hazard ratio of 10.1 (P < 0.0001. )], multiple 8q+ was associated with shorter survival, but neither 8p deletion nor focal changes affecting chromosome 8 were related with prognosis [18] in 2013. Ewens, K. G's team presented an idea were incompletely same with David W. Hammond's opinion, with 320 UM cases to assess the independent contribution of aberration of chromosome 1, 3, 6 and 8 for prognostication of metastasis.…”

Section: Um Patients Displayed the Gain Of Chromosome 8qmentioning

confidence: 97%

“…The karyotypes of UM patients were mainly displayed monosomy 3 and gain of chromosome 8q [7] which both showed bad prognosis [13][14][15][16][17][18][19]. Researchers had further investigated uveal melanomas prognostic situations with nonrandom alterations affecting chromosomes 1, 3, 6, and 8 and clinical features.…”

Section: Um Patients' Prognosis With Aberration Of Karyotypes Um Patimentioning

confidence: 99%

“…Compared with monosomy 3 UM patients' research, none had intensively focused on chromosome 8. But the aberration of chromosome 8 had been verified that it was associated with poor prognosis in UM patients [17][18][19]. In 1997, Sisley K and his team studied 42 UM patients that concluded gain of chromosome 8 was associated significantly with the decreased survival as well as the result will be worsen that combined with chromosome 3 [17] from 1994 to 2014 David W. Hammond studied 75 primary UM cases.…”

Section: Um Patients Displayed the Gain Of Chromosome 8qmentioning

confidence: 99%

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Karyotype aberrations and gene mutations characteristics correlated it with UM prognosis

Mao¹,

Bin²

2017

New Front Ophthalmol

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Researchers tried to determined it whether the prognostic of the high incidence karyotype aberrations and gene mutations that had been displayed in uveal melanoma patients. Such as what the prognosis usually was about UM patients with loss of chromosome 3 (monosomy 3), polyploidy (>2N) or gain of chromosome 8q that were combined with/without the main gene mutations of BAP1 (BRCA-associated protein 1), EIF1AX (eukaryotic translation factor 1A), GNAQ (Guanine nucleotidebinding protein, q polypeptide), GNA11 (Guanine nucleotide-binding protein, subunit alpha-11) and SF3B1 (splicing factor 3 subunit B1). Through the literatures of recent years, researchers had suggested aberration of karyotypes and mutation of genes were both made in patients with different prognostic results than we had anticipated but allowed us to reassure patients with a good prognosis.

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“…Cytogenetic analysis and array comparative genomic hybridization (CGH) were performed on freshly sampled tissue and a sample was cultured as detailed previously [6][7][8]. The tumour was successfully established in culture and both cultured and uncultured specimens shared the same complex genetic alterations, with minor differences likely to relate to heterogeneity within the original sample.…”

Section: Case Reportmentioning

confidence: 99%

Aggressive Ciliary Body Adenocarcinoma with Bilateral Lung Metastases: Histological, Molecular, Genetic and Clinical Aspects

et al. 2018

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Purpose of the Study: To describe the clinical and histopathological features of an aggressive ciliary body adenocarcinoma with pulmonary metastases and skull base spread. Procedures and Results: A 45-year-old female patient presented with a post-traumatic phthisical eye that was eviscerated. This showed an unexpected carcinoma (positive for cytokeratins and melanocytic markers), the histological differential diagnosis for which included a primary ciliary body adenocarcinoma or a metastasis. The patient developed rapid post-surgical localized recurrence that required an orbital exenteration. This showed identical tumour to the evisceration specimen, with vascular invasion in orbital blood vessels and a contaminated orbital soft tissue margin. Staging imaging revealed multiple lung metastases, which were biopsied and shown to be a disseminated ciliary body adenocarcinoma rather than a disseminated primary lung carcinoma. The tumour spread locally to the skull base for which radiotherapy was given. Unfortunately, the patient passed away a few weeks later. Conclusions: To our knowledge, this is the first case of ciliary body adenocarcinoma with bilateral lung metastases. The malignant potential of these tumours should be considered as a possibility, and appropriate screening and staging tests should therefore be considered to guide appropriate management.

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High-Resolution Array CGH Analysis Identifies Regional Deletions and Amplifications of Chromosome 8 in Uveal Melanoma

Cited by 15 publications

References 34 publications

Melanomas Associated With Blue Nevi or Mimicking Cellular Blue Nevi

Melanomas Associated With Blue Nevi or Mimicking Cellular Blue Nevi

Karyotype aberrations and gene mutations characteristics correlated it with UM prognosis

Aggressive Ciliary Body Adenocarcinoma with Bilateral Lung Metastases: Histological, Molecular, Genetic and Clinical Aspects

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