Medical Oncology, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.
Medical Oncology, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
Int J Mol Sci. 2019 Oct 31;20(21):5447. doi: 10.3390/ijms20215447.
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 (), neurofibromin 1 () and telomerase reverse transcriptase (), 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.
结膜黑色素瘤（CjM）是一种罕见的眼部原发性癌症。结膜黑色素瘤的遗传和表观遗传特征尚未完全阐明。结膜黑色素瘤与皮肤黑色素瘤具有相似之处，但在生物学行为上存在显著差异。我们综述了参与浸润和转移扩散的 CjM 的遗传和表观遗传特征。CjM 通常表现为 v-raf 鼠肉瘤病毒致癌基因同源物 B1 ()、神经纤维瘤 1 () 和端粒酶逆转录酶 () 的突变，哺乳动物雷帕霉素靶蛋白（mTOR）和热休克蛋白 90 (HSP90) 的高表达，磷酸酶和张力蛋白同源物（PTEN）的频繁丢失以及特定 miRNAs 的上调。这些特征应将 CjM 鉴定为具有自身特征的黑色素瘤的一个独特亚群，与皮肤黑色素瘤更相似，与黏膜黑色素瘤显著不同，与葡萄膜黑色素瘤差异很大。
