Conjunctival melanoma (CjM) is a rare, primary cancer of the ocular region. Genetic and epigenetic characteristics of conjunctival melanoma have not been completely elucidated yet. Conjunctival melanoma presents similarities with cutaneous melanoma, with substantial differences in the biological behavior. We reviewed the genetic and epigenetic insights of CjM involved in invasion and metastatic spread. CjM is commonly characterized by mutations of v-raf murine sarcoma viral oncogene homolog B1 (BRAF), neurofibromin 1 (NF1) and telomerase reverse transcriptase (TERT), high expression of mammalian target of rapamycin (mTOR) and heat shock protein 90 (HSP90), frequent phosphatase and tensin homolog (PTEN) loss and upregulation of specific miRNAs. These features should identify CjM as a distinct subset of melanoma with its own profile, which is more similar to cutaneous melanoma than mucosal melanoma and remarkably different from uveal melanoma.

译文

:结膜黑色素瘤(CjM)是一种罕见的眼部原发癌。结膜黑色素瘤的遗传和表观遗传学特征尚未完全阐明。结膜黑色素瘤与皮肤黑色素瘤有相似之处,生物学行为上有实质性差异。我们回顾了参与侵袭和转移性传播的CjM的遗传和表观遗传学见解。 CjM的常见特征是v-raf鼠肉瘤病毒癌基因同源物B1(BRAF),神经纤维蛋白1(NF1)和端粒酶逆转录酶(TERT)突变,哺乳动物雷帕霉素靶标(mTOR)和热休克蛋白90(HSP90)的高表达),频繁的磷酸酶和张力蛋白同源物(PTEN)丢失以及特定miRNA的上调。这些特征应将CjM识别为具有自身特征的黑色素瘤的一个独特子集,它与皮肤黑色素瘤比黏膜黑色素瘤更相似,并且与葡萄膜黑色素瘤明显不同。

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