Small choroidal melanoma with chromosome 3 monosomy on fine-needle aspiration biopsy
Small choroidal melanoma with chromosome 3 monosomy on fine-needle aspiration biopsy
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DOI：
10.1016/j.ophtha.2007.04.054
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发表时间：
2007-10-01
期刊：
影响因子：
13.7
通讯作者：
Shields, Jerry A.
中科院分区：
文献类型：
--
作者：
Shields, Carol L.;Materin, Miguel A.;Shields, Jerry A.
目的：采用细针穿刺活检（FNAB）评估小脉络膜黑色素瘤中3号染色体单体性的存在。设计：非比较病例系列。参与者：五十六例厚度小于等于3 mm的小脉络膜黑色素瘤患者，正在接受斑块放射治疗。方法：在斑块放射治疗时使用细针穿刺活检，使用27-对于赤道后肿瘤，通过间接经玻璃体入路将30号长针插入肿瘤顶端，对于赤道前肿瘤，通过直接经巩膜入路将30号短针插入肿瘤基底。主要结果测量：小脉络膜黑色素瘤的3号染色体单体性。结果：中位肿瘤厚度为2.6 mm。15例（27%）病例中发现了3号单体，32例（57%）病例中发现了3号二体。在9例（16%）病例中，基因组DNA产量不足以进行遗传分析。32例中31例（97%）采用27号针经玻璃体穿刺法进行细针抽吸活检，24例中16例（67%）采用30号针经巩膜技术进行采样，其数量足以进行基因检测。与3号二体肿瘤相比，3号单体肿瘤在老年患者中更容易发生（P = 0.040）。单体性3（与二体性3相比）肿瘤显示100%（与84%）的厚度大于2 mm，87%（与94%）的视网膜下积液，40%（与56%）的症状，93%（与81%）的橙子色素，20%（与50%）的视盘边缘小于或等于3 mm。在这些临床因素的存在或数量方面，单体3和二体3肿瘤之间没有统计学差异。然而，小的脉络膜黑色素瘤与单体3突变更可能有记录的增长（63%）相比，与二体性3（25%; P = 0.025;比值比，5.00）。结论：使用FNAB在斑块放疗时，单体3被发现在约27%的小脉络膜黑色素瘤，更常见于老年患者和肿瘤有记录的增长。与经巩膜穿刺活检肿瘤基底相比，经玻璃体穿刺活检到肿瘤顶端提供了更好的产率。
Purpose: To evaluate the presence of chromosome 3 monosomy in small choroidal melanoma using fine-needle aspiration biopsy (FNAB).Design: Noncomparative case series.Participants: Fifty-six patients with small choroidal melanoma measuring 3 mm or less in thickness who were undergoing plaque radiotherapy.Methods: Fine-needle aspiration biopsy was used at the time of plaque radiotherapy to sample tumor cells using a 27-gauge long needle via an indirect transvitreal approach into the tumor apex for postequatorial tumors or a 30-gauge short needle via a direct transscleral approach into the tumor base for preequatorial tumors.Main Outcome Measures: Chromosome 3 monosomy in small choroidal melanoma.Results: The median tumor thickness was 2.6 mm. Monosomy 3 was found in 15 (27%) cases and disomy 3 was found in 32 (57%) cases. In 9 (16%) cases, genomic DNA yield was insufficient for genetic analysis. Fine-needle aspiration biopsy with a 27-gauge needle transvitreal approach provided quantity sufficient for genetic testing in 31 (97%) of 32 cases versus 16 (67%) of 24 cases sampled with a 30-gauge transscleral technique. Compared with disomy 3 tumors, monosomy 3 tumors were statistically more likely to occur in older patients (P = 0.040). Monosomy 3 (versus disomy 3) tumors showed thickness of more than 2 mm in 100% (vs. 84%), subretinal fluid in 87% (vs. 94%), symptoms in 40% (vs. 56%), orange pigment in 93% (vs. 81 %), and margin of 3 mm or less to the optic disc in 20% (vs. 50%). There was no statistical difference between monosomy 3 and disomy 3 tumors in the presence or number of these clinical factors. However, small choroidal melanomas with monosomy 3 mutation were more likely to have had documented growth (63%) compared with those with disomy 3 (25%; P = 0.025; odds ratio, 5.00).Conclusions: Using FNAB at the time of plaque radiotherapy, monosomy 3 was found in approximately 27% of small choroidal melanomas, more often in older patients and tumors with documented growth. Transvitreal biopsy into the tumor apex provided better yield compared with transscleral biopsy into the tumor base.