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Through the looking glass and what you find there: making sense of comparative genomic hybridization and fluorescence in situ hybridization for melanoma diagnosis.
Modern Pathology ( IF 7.1 ) Pub Date : 2020-02-17 , DOI: 10.1038/s41379-020-0490-7
Jayson Miedema 1 , Aleodor A Andea 2
Affiliation  

Melanoma is the leading cause of death among cutaneous neoplasms. Best outcome relies on early detection and accurate pathologic diagnosis. For the great majority of melanocytic tumors, histopathologic examination can reliably distinguish nevi from melanomas. However, there is a subset of melanocytic tumors that cannot be definitively classified as benign or malignant using histopathological criteria alone. These tumors are usually diagnosed using terms that imply various degrees of uncertainty in regards to their malignant potential and create the possibility for over or undertreatment. For such tumors, additional ancillary tests would be beneficial in adjudicating a more definitive diagnosis. In recent years, DNA-based molecular ancillary tests, specifically comparative genomic hybridization and fluorescence in situ hybridization, have been developed to help guide the diagnosis of ambiguous melanocytic proliferations. This study will present an updated overview of these two major ancillary tests, which are currently being used in clinical practice to assist in the diagnosis of challenging melanocytic neoplasms.

中文翻译:

通过窥镜和你在那里发现的东西:理解用于黑色素瘤诊断的比较基因组杂交和荧光原位杂交。

黑色素瘤是皮肤肿瘤中死亡的主要原因。最佳结果依赖于早期检测和准确的病理诊断。对于绝大多数黑色素细胞肿瘤,组织病理学检查可以可靠地区分痣和黑色素瘤。然而,有一部分黑色素细胞肿瘤不能仅使用组织病理学标准明确分类为良性或恶性。这些肿瘤通常使用暗示其恶性潜能具有不同程度不确定性的术语进行诊断,并可能导致过度治疗或治疗不足。对于此类肿瘤,额外的辅助测试将有助于做出更明确的诊断。近年来,基于DNA的分子辅助试验,特别是比较基因组杂交和荧光原位杂交,已开发用于帮助指导模糊黑素细胞增殖的诊断。本研究将对这两项主要的辅助测试进行更新概述,这两项测试目前正用于临床实践,以协助诊断具有挑战性的黑色素细胞肿瘤。
更新日期:2020-02-18
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