结膜黑色素瘤中的 NF1 突变。
NF1 mutations in conjunctival melanoma.
机构信息
Department of Ophthalmology, University Hospital Essen, Hufelandstrasse 55, Essen, 45147, Germany.
Department of Dermatology, University Hospital Essen, Hufelandstrasse 55, Essen, 45147, Germany.
出版信息
Br J Cancer. 2018 May;118(9):1243-1247. doi: 10.1038/s41416-018-0046-5. Epub 2018 Mar 21.
BACKGROUND
Conjunctival melanoma is a potentially deadly eye tumour. Despite effective local therapies, tumour recurrence and metastasis remain frequent. The genetics of conjunctival melanomas remain incompletely understood.
METHODS
A large cohort of 63 conjunctival melanomas was screened for gene mutations known to be important in other melanoma subtypes by targeted next-generation sequencing. Mutation status was correlated with patient prognosis.
RESULTS
Frequent mutations in genes activating the MAP kinase pathway were identified. NF1 mutations were most frequent (n = 21, 33%). Recurrent activating mutations were also identified in BRAF (n = 16, 25%) and RAS genes (n = 12, 19%; 11 NRAS and 1 KRAS).
CONCLUSIONS
Similar to cutaneous melanomas, conjunctival melanomas can be grouped genetically into four groups: BRAF-mutated, RAS-mutated, NF1-mutated and triple wild-type melanomas. This genetic classification may be useful for assessment of therapeutic options for patients with metastatic conjunctival melanoma.
背景
结膜黑色素瘤是一种潜在致命的眼部肿瘤。尽管有有效的局部治疗方法，但肿瘤复发和转移仍很常见。结膜黑色素瘤的遗传学仍不完全清楚。
方法
通过靶向下一代测序，对 63 例结膜黑色素瘤进行了筛查，以寻找已知在其他黑色素瘤亚型中重要的基因突变。突变状态与患者预后相关。
结果
鉴定出激活 MAP 激酶通路的基因的频繁突变。NF1 突变最为常见（n=21，33%）。还发现 BRAF（n=16，25%）和 RAS 基因（n=12，19%；11 个 NRAS 和 1 个 KRAS）中存在反复激活的突变。
结论
与皮肤黑色素瘤类似，结膜黑色素瘤可根据基因分为 4 组：BRAF 突变型、RAS 突变型、NF1 突变型和三野生型黑色素瘤。这种遗传分类可能有助于评估转移性结膜黑色素瘤患者的治疗选择。
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