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

Détails

Ressource 1Télécharger: 30672666_BIB_4BAB8405ADEF.pdf (1516.26 [Ko])
Etat: Public
Version: Final published version
Licence: CC BY 4.0
ID Serval
serval:BIB_4BAB8405ADEF
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Conjunctival melanoma copy number alterations and correlation with mutation status, tumor features, and clinical outcome.
Périodique
Pigment cell & melanoma research
Auteur⸱e⸱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
Statut éditorial
Publié
Date de publication
07/2019
Peer-reviewed
Oui
Volume
32
Numéro
4
Pages
564-575
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Résumé
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.
Mots-clé
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
Oui
Création de la notice
17/02/2019 16:10
Dernière modification de la notice
13/01/2021 8:08
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