van Dijk Marcory, Sprenger Sandra, Rombout Paul, Marres Henri, Kaanders Johannes, Jeuken Judith, Ruiter Dirk
Department of Pathology, University Medical Center Nijmegen, Nijmegen, The Netherlands.
Genes Chromosomes Cancer. 2003 Feb;36(2):151-8. doi: 10.1002/gcc.10156.
Sinonasal mucosal melanomas are the most frequent mucosal melanomas and arise from melanocytes located in the nasal cavity and the paranasal sinuses. The melanoma types, cutaneous melanoma, uveal melanoma, and mucosal melanoma, differ in etiology, geographic distribution, and clinical behavior. Genetic alterations have been previously studied in cutaneous and uveal melanomas but, to the best of our knowledge, not in mucosal melanomas. Comparative genomic hybridization (CGH) was performed on 14 routinely processed sinonasal mucosal melanomas. Furthermore, ploidy analysis was performed on 11 tumors to provide complementary data on the DNA index. The CGH profiles of sinonasal mucosal melanomas show remarkably consistent alterations: chromosome arm 1q is gained in all tumors and gains of 6p and 8q are present in 93 and 57%, respectively. Comparison of CGH data with both the common variants of cutaneous melanoma and uveal melanoma revealed that sinonasal mucosal melanomas harbor a distinct pattern of chromosomal abnormalities. Ploidy analysis also showed that diploid tumors exhibit gains of 1q and alterations of chromosome 6 (3 of 3 cases tested), whereas clear-copy gains and high-copy gains were seen only in triploid and tetraploid tumors (6 of 8 cases tested). This indicates that alteration of chromosomes 1 and 6 may precede polyploidization and formation of clear-copy gains and high-copy gains.
鼻窦黏膜黑色素瘤是最常见的黏膜黑色素瘤，起源于鼻腔和鼻窦中的黑素细胞。黑色素瘤类型，即皮肤黑色素瘤、葡萄膜黑色素瘤和黏膜黑色素瘤，在病因、地理分布和临床行为方面存在差异。此前已对皮肤和葡萄膜黑色素瘤的基因改变进行了研究，但据我们所知，尚未对黏膜黑色素瘤进行研究。对14例常规处理的鼻窦黏膜黑色素瘤进行了比较基因组杂交（CGH）分析。此外，对11例肿瘤进行了倍性分析，以提供关于DNA指数的补充数据。鼻窦黏膜黑色素瘤的CGH图谱显示出显著一致的改变：所有肿瘤均出现1q染色体臂增加，6p和8q增加分别出现在93%和57%的肿瘤中。将CGH数据与皮肤黑色素瘤和葡萄膜黑色素瘤的常见变异进行比较，发现鼻窦黏膜黑色素瘤具有独特的染色体异常模式。倍性分析还表明，二倍体肿瘤表现出1q增加和6号染色体改变（3例检测病例中的3例），而仅在三倍体和四倍体肿瘤中观察到清晰拷贝增加和高拷贝增加（8例检测病例中的6例）。这表明1号和6号染色体的改变可能先于多倍体化以及清晰拷贝增加和高拷贝增加的形成。
