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Pigment Cell Melanoma Res. 2019 Jul;32(4):564-575. doi: 10.1111/pcmr.12767. Epub 2019 Feb 19.

Conjunctival melanoma copy number alterations and correlation with mutation status, tumor features, and clinical outcome.

Author information

1
Liverpool Ocular Oncology Research Group, Institute of Translational Medicine, University of Liverpool, Liverpool, UK.
2
Aintree University Hospital, Liverpool, UK.
3
Clatterbridge Cancer Centre, Wirral, UK.
4
Eye Pathology Section, Department of Pathology and Department of Ophthalmology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
5
The New York Eye Cancer Centre, New York.
6
Ocular Oncology Service, Galliera Hospital, Genoa, Italy.
7
Ophthalmic Pathology Laboratory and Department of Ophthalmology, Jules Gonin Eye Hospital, Lausanne, Switzerland.
8
Ophthalmology Department, Oslo University Hospital, Oslo, Norway.
9
Ophthalmology Department, University Hospital of Nice, Nice, France.
10
Ophthalmology Department, Leiden University Medical Centre, Leiden, The Netherlands.
11
Department of Medical Physics and Clinical Engineering, Royal Liverpool University Hospital, Liverpool, UK.
12
Liverpool Ocular Oncology Centre, Royal Liverpool University Hospital, Liverpool, UK.
13
Oxford Eye Hospital and Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
14
Cellular Pathology, Liverpool Clinical Laboratories, Royal Liverpool University Hospital, Liverpool, UK.

Abstract

Relatively little is known about the genetic aberrations of conjunctival melanomas (CoM) and their correlation with clinical and histomorphological features as well as prognosis. The aim of this large collaborative multicenter study was to determine potential key biomarkers for metastatic risk and any druggable targets for high metastatic risk CoM. Using Affymetrix single nucleotide polymorphism genotyping arrays on 59 CoM, we detected frequent amplifications on chromosome (chr) 6p and deletions on 7q, and characterized mutation-specific copy number alterations. Deletions on chr 10q11.21-26.2, a region harboring the tumor suppressor genes, PDCD4, SUFU, NEURL1, PTEN, RASSF4, DMBT1, and C10orf90 and C10orf99, significantly correlated with metastasis (Fisher's exact, p ≤ 0.04), lymphatic invasion (Fisher's exact, p ≤ 0.02), increasing tumor thickness (Mann-Whitney, p ≤ 0.02), and BRAF mutation (Fisher's exact, p ≤ 0.05). This enhanced insight into CoM biology is a step toward identifying patients at risk of metastasis and potential therapeutic targets for systemic disease.

KEYWORDS:

BRAF/NRAS mutation; allele-specific copy number; conjunctival melanoma; copy number alteration; metastasis

PMID:
30672666
DOI:
10.1111/pcmr.12767

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