Introduction: Diagnostic uncertainty for ambiguous lesions that fall on the spectrum between nevi and melanoma remains a significant challenge and can have consequences for patient management. Methods: This study aimed to compare the diagnostic utility of preferentially expressed antigen in melanoma (PRAME) immunohistochemistry to molecular testing (FISH and SNP array) in 34 diagnostically challenging melanocytic lesions and 9 non-diagnostically challenging melanomas. Results: We conclude that while PRAME immunohistochemistry demonstrates high specificity (96.2%) in diagnostically challenging melanocytic lesions, its low sensitivity (12.5%) suggests that it should not replace histopathological evaluation in rendering the final diagnosis. Conclusions: These findings suggest that PRAME may serve as a useful adjunct in the diagnostic workup, particularly due to its high negative predictive value, but should be used in conjunction with other established diagnostic modalities.
引言:对于介于痣与黑色素瘤之间的不明确病变,诊断不确定性仍是一个重大挑战,并可能影响患者的临床管理。方法:本研究旨在比较黑色素瘤优先表达抗原(PRAME)免疫组化检测与分子检测(荧光原位杂交和单核苷酸多态性阵列)在34例诊断困难的黑色素细胞病变和9例诊断明确的黑色素瘤中的诊断效用。结果:我们发现,尽管PRAME免疫组化在诊断困难的黑色素细胞病变中表现出高特异性(96.2%),但其低敏感性(12.5%)表明它不应取代组织病理学评估作为最终诊断依据。结论:这些发现提示PRAME可作为诊断过程中的有效辅助手段,特别是因其较高的阴性预测价值,但应与其他成熟的诊断方法结合使用。