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    Definition of biologically distinct groups of conjunctival melanomas according to etiological factors and implications for precision medicine

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    Authors
    Gardrat, S.
    Houy, A.
    Brooks, Kelly
    Cassoux, N.
    Barnhill, R.
    Dayot, S.
    Bièche, I.
    Raynal, V.
    Baulande, S.
    Marais, Richard
    Roman-Roman, S.
    Stern, M. H
    Rodrigues, M.
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    Affiliation
    INSERM U830, DNA Repair and Uveal Melanoma (D.R.U.M.), Equipe Labellisée par la Ligue Nationale Contre le Cancer and PSL Research University, Department of Biopathology, Institut Curie, PSL Research University, F-75005 Paris, France
    Issue Date
    2021
    
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    Abstract
    Conjunctival melanoma (ConjMel) is a potentially deadly ocular melanoma, originating from partially sunlight-exposed mucosa. We explored the mutational landscape of ConjMel and studied the correlation with etiological factors. We collected 47 primary ConjMel samples and performed next-generation sequencing of 400 genes. Hotspot mutations in BRAF, NRAS, HRAS, and KIT were observed in 16 (34%), 5 (11%), 2, and 2 cases, respectively. Patients with BRAF and CDKN2A-mutated ConjMel tended to be younger while the NF1-mutated one tended to be older. The eight tumors arising from nevi were enriched in CTNNB1 mutations (63% vs. 8%; Fisher's exact p-test = 0.001) compared to non-nevi ConjMel and five were devoid of BRAF, RAS, NF1, or KIT mutations, suggesting a specific oncogenic process in these tumors. The two KIT-mutated cases carried SF3B1 mutations and were located on sun-protected mucosa, a genotype shared with genital and anorectal mucosal melanomas. Targetable mutations were observed in ERBB2, IDH1, MET, and MAP2K1 (one occurrence each). Mutational landscape of ConjMel characterizes distinct molecular subtypes with oncogenic drivers common with mucosal and skin melanomas. CTNNB1 mutations were associated with nevus-derived ConjMel. Concomitant KIT/SF3B1 mutations in sun-protected cases suggest a common tumorigenic process with genital and anorectal mucosal melanomas.
    Citation
    Gardrat S, Houy A, Brooks K, Cassoux N, Barnhill R, Dayot S, et al. Definition of Biologically Distinct Groups of Conjunctival Melanomas According to Etiological Factors and Implications for Precision Medicine. Cancers. 2021 Jul 30;13(15):3836.
    Journal
    Cancers
    URI
    http://hdl.handle.net/10541/624555
    DOI
    10.3390/cancers13153836
    PubMed ID
    34359736
    Additional Links
    https://dx.doi.org/10.3390/cancers13153836
    Type
    Article
    Language
    en
    ae974a485f413a2113503eed53cd6c53
    10.3390/cancers13153836
    Scopus Count
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    All Paterson Institute for Cancer Research

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