Citation: Pigment cell & melanoma research. 2019, 32(4), 564-75
Author: Kenawy N, Kalirai H, Sacco JJ, Lake SL, Heegaard S, Larsen AC, Finger PT, Milman T, Chin K, Mosci C, Lanza F, Moulin A, Schmitt CA, Caujolle JP, Maschi C, Marinkovic M, Taktak AF, Heimann H, Damato BE, Coupland SE
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.
© 2019 The Authors. Pigment Cell & Melanoma Research Published by John Wiley & Sons Ltd.
KEYWORDS: BRAF/NRAS mutation; allele-specific copy number; conjunctival melanoma; copy number alteration; metastasis
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