Chang Melinda Y, Rao Nagesh P, Burgess Barry L, Johnson Lariza, McCannel Tara A
Department of Ophthalmology, University of California, Los Angeles, CA ; Jules Stein Eye Institute, University of California, Los Angeles, CA.
Mol Vis. 2013 Sep 7;19:1892-900. eCollection 2013.
To report on the heterogeneity of monosomy 3 in a fine needle aspiration biopsy obtained transsclerally from choroidal melanoma for prognosis.
All clinical records for patients who had been diagnosed with choroidal melanoma and underwent iodine-125 plaque brachytherapy with intraoperative transscleral fine needle aspiration biopsy from January 2005 to August 20, 2011, and who had a positive result for monosomy 3 according to fluorescence in situ hybridization as reported by clinical cytogenetics testing were collected. Patient age and sex, total number of cells evaluated and number of cells positive for monosomy 3, tumor size, and metastatic outcome were recorded for each patient.
A positive result for monosomy 3 was reported in 93 patients who underwent transscleral fine needle aspiration biopsy. Two patients were lost to follow-up immediately post-operatively, and the remaining 91 patients were included in this study. The mean number of cells evaluated in the biopsy was 273 (range 28 to 520). The mean percentage of cells positive for monosomy 3 was 62.9% (range 4.7%-100%). The mean tumor height was 5.91 mm (range 1.99 to 10.85 mm). Larger tumors were associated with a higher percentage of cells positive for monosomy 3. During the average follow-up interval of 28.9 months (range 3-76 months), choroidal melanoma metastasis developed in 18 (20%) patients. Patients whose tumors had 1%-33% of cells positive for monosomy 3 had a significantly lower risk of metastasis-related death compared to patients whose tumors harbored a higher percentage of monosomy 3 (p = 0.04).
Cytogenetic heterogeneity of fluorescent in situ hybridization for monosomy 3 exists in a biopsy sample. Larger tumors were more likely to have a higher percentage of monosomy 3 positive cells in the sample. Furthermore, patients whose tumors had more than 33% of cells positive for monosomy 3 had a poorer prognosis than patients whose tumors had lower percentages of monosomy 3.
报告经巩膜细针穿刺活检获得的脉络膜黑色素瘤中3号染色体单体性的异质性，以评估预后。
收集2005年1月至2011年8月20日期间被诊断为脉络膜黑色素瘤并接受碘-125敷贴近距离放疗且术中经巩膜细针穿刺活检的患者的所有临床记录，这些患者根据临床细胞遗传学检测的荧光原位杂交结果显示3号染色体单体性为阳性。记录每位患者的年龄、性别、评估的细胞总数和3号染色体单体性阳性的细胞数、肿瘤大小及转移结果。
93例行经巩膜细针穿刺活检的患者3号染色体单体性检测结果为阳性。2例患者术后立即失访，其余91例患者纳入本研究。活检中评估的细胞平均数为273个（范围28至520个）。3号染色体单体性阳性细胞的平均百分比为62.9%（范围4.7%-100%）。平均肿瘤高度为5.91mm（范围1.99至10.85mm）。较大的肿瘤与3号染色体单体性阳性细胞的百分比更高相关。在平均28.9个月（范围3至76个月）的随访期内，18例（20%）患者发生了脉络膜黑色素瘤转移。肿瘤中3号染色体单体性阳性细胞占1%-33%的患者与肿瘤中3号染色体单体性比例更高的患者相比，转移相关死亡风险显著更低（p = 0.04）。
活检样本中存在3号染色体单体性荧光原位杂交细胞遗传学异质性。较大的肿瘤在样本中更可能有更高百分比的3号染色体单体性阳性细胞。此外，肿瘤中3号染色体单体性阳性细胞超过33%的患者预后比3号染色体单体性比例较低的患者更差。
