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

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Version: Final published version
License: CC BY 4.0
Serval ID
serval:BIB_4BAB8405ADEF
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Conjunctival melanoma copy number alterations and correlation with mutation status, tumor features, and clinical outcome.
Journal
Pigment cell & melanoma research
Author(s)
Kenawy N., Kalirai H., Sacco J.J., Lake S.L., Heegaard S., Larsen A.C., Finger P.T., Milman T., Chin K., Mosci C., Lanza F., Moulin A., Schmitt C.A., Caujolle J.P., Maschi C., Marinkovic M., Taktak A.F., Heimann H., Damato B.E., Coupland S.E.
ISSN
1755-148X (Electronic)
ISSN-L
1755-1471
Publication state
Published
Issued date
07/2019
Peer-reviewed
Oui
Volume
32
Number
4
Pages
564-575
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
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
Adult, Aged, Aged, 80 and over, Conjunctival Neoplasms/genetics, Conjunctival Neoplasms/pathology, DNA Copy Number Variations/genetics, DNA Mutational Analysis, Female, Humans, Kaplan-Meier Estimate, Karyotype, Male, Melanoma/genetics, Melanoma/pathology, Middle Aged, Mutation/genetics, Neoplasm Metastasis, Risk Factors, Treatment Outcome, BRAF/NRAS mutation, allele-specific copy number, conjunctival melanoma, copy number alteration, metastasis
Pubmed
Web of science
Open Access
Yes
Create date
17/02/2019 16:10
Last modification date
13/01/2021 8:08
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