Chromosome 3 Intratumor Heterogeneity in Uveal Melanoma
Chromosome 3 Intratumor Heterogeneity in Uveal Melanoma
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DOI：
10.1167/iovs.08-2279
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发表时间：
2009-02-01
影响因子：
4.4
通讯作者：
de Klein, Annelies
中科院分区：
文献类型：
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作者：
Mensink, Hanneke W.;Vaarwater, Jolanda;de Klein, Annelies
目的。应用荧光原位杂交（FISH）技术探讨葡萄膜黑色素瘤中3单体是否存在局灶性或弥漫性异质性。在151例葡萄膜黑色素瘤的直接间期FISH检查中发现82例肿瘤伴3号染色体缺失。如果3号单体、三倍体克隆的比例较低，3号着丝粒上的FISH与3号染色体长臂不一致，或细针穿刺活检（fnab）与主要肿瘤不一致，则怀疑3号单体肿瘤是异质的。这些肿瘤（n = 16）均为脉络膜黑色素瘤，通过石蜡包埋组织切片的FISH分析肿瘤内异质性。对每个肿瘤的不同切片进行FISH评估：6个肿瘤在整个肿瘤中显示相同百分比的单体3,10个肿瘤显示多个克隆，单体3的百分比不同。然而，这些肿瘤在3号染色体状态方面没有表现出局灶性异质性，并且无法确定肿瘤基部和顶点之间3号单体分布的差异。虽然少数葡萄膜黑色素瘤在3号染色体上表现出异质性，但这并不影响患者的生存。在存在三倍体克隆的情况下，3号染色体的丢失更难以解释。一般来说，葡萄膜黑色素瘤的肿瘤活检可以准确预测患者的预后。（Invest Ophthalmol Vis Sci. 2009;50:500-504） DOI:10.1167/iovs.08-2279
PURPOSE. To investigate the presence of focal or diffuse heterogeneity of monosomy 3 in uveal melanoma, by using fluorescence in situ hybridization (FISH).METHODS. Direct interphase FISH in a series of 151 uveal melanomas revealed 82 tumors with loss of chromosome 3. Tumors with monosomy 3 were suspected to be heterogeneous if there were low percentages of monosomy 3, triploid clones, inconsistencies between FISH on centromere 3 and the long arm of chromosome 3, or discrepancies between fine-needle aspiration biopsies (FNABs) and the main tumor. These tumors (n = 16), all choroidal melanomas, were selected and analyzed for intratumor heterogeneity by using FISH on paraffin-embedded tissue sections.RESULTS. Different sections of each tumor were evaluated with FISH: 6 tumors showed monosomy 3 in the same percentage throughout the tumor, and 10 showed multiple clones with different percentages of monosomy 3. However, these tumors did not show focal heterogeneity with respect to chromosome 3 status, and differences in monosomy 3 distribution between the base and apex of the tumor could not be identified.CONCLUSIONS. Although a small number of uveal melanomas show heterogeneity for chromosome 3, it does not affect survival. In the presence of triploid clones, the loss of chromosome 3 is more difficult to interpret. In general, tumor biopsies in uveal melanoma provide an accurate prediction of the patient's prognosis. (Invest Ophthalmol Vis Sci. 2009;50:500-504) DOI:10.1167/iovs.08-2279