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



Kenawy, Nihal, Kalirai, Helen ORCID: 0000-0002-4440-2576, Sacco, Joseph J, Lake, Sarah L, Heegaard, Steffen, Larsen, Ann-Cathrine, Finger, Paul T, Milman, Tatyana, Chin, Kimberly, Mosci, Carlo
et al (show 10 more authors) (2019) Conjunctival melanoma copy number alterations and correlation with mutation status, tumor features and clinical outcome. Pigment cell & melanoma research, 32 (4). 564 - 575.

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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 multicentre 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 characterised mutation-specific copy number alterations. Deletions on chr 10q11.21-26.2, a region harbouring the tumor suppressor genes, PDCD4, SUFU, NEURL1, PTEN, RASSF4, DMBT1 and C10orf90 & 99 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 towards identifying patients at risk of metastasis and potential therapeutic targets for systemic disease. This article is protected by copyright. All rights reserved.

Item Type: Article
Uncontrolled Keywords: allele‐specific copy number, BRAF/NRAS mutation, conjunctival melanoma, copy number alteration, metastasis
Depositing User: Symplectic Admin
Date Deposited: 22 Feb 2019 16:37
Last Modified: 15 Oct 2021 17:39
DOI: 10.1111/pcmr.12767
Open Access URL: https://doi.org/10.1111/pcmr.12767
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URI: https://livrepository.liverpool.ac.uk/id/eprint/3033292