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Detection of chromosome copy number changes to distinguish melanocytic nevi from malignant melanoma

机译:检测染色体拷贝数变化以区分黑素细胞痣和恶性黑色素瘤

摘要

The present invention provides for methods of distinguishing melanocytic nevi, such as Spitz nevi, from malignant melanoma. The methods comprise contacting a nucleic acid sample from a patient with a probe which binds selectively to a target polynucleotide sequence on a chromosomal region such as 11p, which is usually amplified in Spitz nevi. The nucleic acid sample is typically from skin tumor cells located within a tumor lesion on the skin of the patient. Using another probe which binds selectively to a chromosomal region such as 1q, 6p, 7p, 9p, or 10q, which usually show altered copy number in melanoma, the method can determine that those tumor cells with no changes in copy number of 1q, 6p, 7p, 9p, or 10q, are not melanoma cells but rather Spitz nevus cells. The finding of amplifications of chromosome 11p would be an additional indication of Spitz nevus.
机译:本发明提供了区分恶性黑素瘤的黑素细胞痣如斯皮茨痣的方法。所述方法包括使来自患者的核酸样品与探针选择性接触,所述探针选择性地结合在染色体区域如11p上的靶多核苷酸序列,所述序列通常在斯皮兹痣中扩增。核酸样品通常来自位于患者皮肤上肿瘤病变内的皮肤肿瘤细胞。使用另一种与染色体区域(例如1q,6p,7p,9p或10q)选择性结合的探针,这些探针通常在黑素瘤中显示出改变的拷贝数,该方法可以确定那些没有改变1q,6p拷贝数的肿瘤细胞,7p,9p或10q不是黑色素瘤细胞,而是Spitz痣细胞。染色体11p扩增的发现可能是斯皮茨痣的另一个迹象。

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