Busam Klaus J, Fang Yuqiang, Jhanwar Suresh C, Pulitzer Melissa P, Marr Brian, Abramson David H
Department of Pathology, Ophthalmologic Oncology Service, Memorial Sloan-Kettering Cancer Center, New York, NY 10065, USA.
J Cutan Pathol. 2010 Feb;37(2):196-203. doi: 10.1111/j.1600-0560.2009.01488.x.
A conjunctival melanocytic nevus may on occasion be difficult to distinguish from melanoma both clinically and histopathologically. An unambiguous correct diagnosis is critical because of major differences in management and prognosis. We evaluated a fluorescence in situ hybridization (FISH) assay, which has previously been shown to be of value for the diagnosis of melanocytic nevi and melanomas of the skin, using probes targeting 6p25 (RREB1), 6q23 (MYB), 11q13 (CCND1) and centromere 6 (CEP6), for its potential to assist in the distinction of conjunctival melanocytic nevi from melanomas. Four melanocytic nevi and eight melanomas of the conjunctiva were analyzed. Two of the melanomas were diagnostically problematic because of suboptimal histopathology. None of the conjunctival melanocytic nevi showed a level of chromosomal aberrations that met FISH criteria for a diagnosis of melanoma. All eight conjunctival melanomas (six unequivocal and two suspicious lesions) met FISH criteria for melanoma. Thus, results from FISH assay targeting 6p25, 6q23, 11q13 and centromere 6 correlated well with the histopathologic diagnoses and supported the histopathologic suspicion in two problem cases. The findings encourage further exploration of this technique as an ancillary method for the work-up of conjunctival melanocytic proliferations.
结膜黑素细胞痣有时在临床和组织病理学上都难以与黑色素瘤区分开来。由于治疗和预后存在重大差异,明确的正确诊断至关重要。我们评估了一种荧光原位杂交(FISH)检测方法,该方法先前已被证明对皮肤黑素细胞痣和黑色素瘤的诊断有价值,使用针对6p25(RREB1)、6q23(MYB)、11q13(CCND1)和6号染色体着丝粒(CEP6)的探针,以协助区分结膜黑素细胞痣和黑色素瘤。分析了4例结膜黑素细胞痣和8例结膜黑色素瘤。其中2例黑色素瘤由于组织病理学欠佳而诊断存在问题。所有结膜黑素细胞痣均未显示出达到FISH黑色素瘤诊断标准的染色体畸变水平。所有8例结膜黑色素瘤(6例明确病例和2例可疑病变)均符合FISH黑色素瘤诊断标准。因此,针对6p25、6q23、11q13和6号染色体着丝粒的FISH检测结果与组织病理学诊断结果高度相关,并在2例疑难病例中支持了组织病理学怀疑。这些发现鼓励进一步探索该技术作为结膜黑素细胞增殖检查的辅助方法。