Ocular Oncology Service, Wills Eye Institute, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.
Retina. 2011 Mar;31(3):574-80. doi: 10.1097/IAE.0b013e3181f57e62.
To determine the incidence of Chromosome 3 monosomy in iris melanoma using fine needle aspiration biopsy.
Noncomparative case series of 17 patients. Fine needle aspiration biopsy was performed intraoperatively immediately before treatment of iris melanoma. Genetic analysis using DNA amplification and microsatellite assay was performed in the specimen.
Clinical features and outcomes related to Chromosome 3 monosomy were reviewed. Disomy 3 was found in 5 melanomas (29%), partial Monosomy 3 in 7 melanomas (41%), and complete Monosomy 3 in 5 melanomas (29%). The only feature statistically associated with partial/complete Monosomy 3 (vs. Disomy 3) was older patients' age (median, 60 vs. 46 years, P = 0.03). A comparison of clinical features showed Monosomy 3 (vs. Disomy 3) tumors to be thinner (median, 2.8 vs. 4.2 mm) and with smaller base (median, 5.1 vs. 10 mm) but with greater iris seeding (mean, 5.7 vs. 2.4 clock hours) and greater angle seeding (mean, 3.2 vs. 0 clock hours), producing elevated intraocular pressure <22 mmHg (17 vs. 0%). Monosomy 3 tumors showed mixed/epithelioid cell type in 80% versus 0% in Disomy 3 (P = 0.14). No patients developed local melanoma recurrence or melanoma-related metastasis or death in the short 16-month mean follow-up.
Using fine needle aspiration biopsy, cytogenetic analysis can be achieved in iris melanoma. Iris melanoma demonstrated partial or complete Monosomy 3 in 71%, and this statistically correlated with increasing patients' age. Mixed/epithelioid cell type was far more commonly seen in patients with Monosomy 3, although this did not reach statistical significance.
通过细针抽吸活检确定虹膜黑色素瘤中 3 号染色体单体的发生率。
对 17 例患者进行非对照病例系列研究。在治疗虹膜黑色素瘤之前，在手术中立即进行细针抽吸活检。对标本进行 DNA 扩增和微卫星分析的遗传分析。
回顾了与 3 号染色体单体有关的临床特征和结局。在 5 个黑色素瘤中发现了二倍体 3（29％），7 个黑色素瘤中的部分单体 3（41％）和 5 个黑色素瘤中的完全单体 3（29％）。唯一与部分/完全单体 3（与二倍体 3 相比）统计学相关的特征是老年患者的年龄（中位数，60 岁与 46 岁，P = 0.03）。对临床特征的比较表明，单体 3（与二倍体 3 相比）肿瘤更薄（中位数，2.8 毫米与 4.2 毫米）和基底更小（中位数，5.1 毫米与 10 毫米），但虹膜播种更多（平均值，5.7 个时钟小时与 2.4 个时钟小时）和角度播种更多（平均值，3.2 个时钟小时与 0 个时钟小时），导致眼内压升高<22mmHg（17 个与 0 个）。单体 3 肿瘤的混合/上皮样细胞类型为 80％，而二倍体 3 肿瘤为 0％（P = 0.14）。在平均 16 个月的短期随访中，没有患者出现局部黑色素瘤复发、黑色素瘤相关转移或死亡。
通过细针抽吸活检，可以对虹膜黑色素瘤进行细胞遗传学分析。虹膜黑色素瘤中显示出部分或完全单体 3 的占 71％，这与患者年龄的增加呈统计学相关。混合/上皮样细胞类型在单体 3 患者中更为常见，尽管这没有达到统计学意义。
