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荧光杂交技术在黑色素瘤诊断中的利弊

Fluorescence hybridization in melanoma diagnosis: Pros and cons.

作者信息

Mihulecea Cristina-Raluca Jitian, Ceaușu Amalia Raluca, Gaje Nela Pușa, Rotaru Maria, Raica Marius

机构信息

Department of Microscopic Morphology and Histology, Angiogenesis Research Center, Victor Babeș University of Medicine and Pharmacy, 300041 Timișoara, Romania.

Department of Doctoral Studies, Victor Babeș University of Medicine and Pharmacy, 300041 Timișoara, Romania.

出版信息

Exp Ther Med. 2025 Apr 14;29(6):118. doi: 10.3892/etm.2025.12868. eCollection 2025 Jun.

Abstract

Melanocytic lesions frequently present diagnostic challenges due to their high degree of morphological heterogeneity. While histopathological examination remains the gold standard for melanoma diagnosis, alternative methods, such as fluorescence hybridization (FISH), are used to support diagnosis in uncertain cases. FISH is a complementary diagnostic tool that can help differentiate between nevi and melanoma by detecting chromosomal anomalies. However, its accuracy is limited by false-positive and false-negative results. The present study assessed the utility and limitations of FISH in melanoma diagnosis by analyzing chromosomal anomalies in 18 melanocytic lesions previously classified as atypical nevi or melanoma based on dermoscopic and histopathological criteria. The results revealed that FISH confirmed nearly all atypical nevi as benign lesions (with the exception of one lesion); however, it failed to definitively confirm all melanomas. These findings highlight both the strengths and weaknesses of FISH, suggesting that while it is a useful adjunctive tool, it should not replace conventional histopathological examination. Instead, FISH should be interpreted with caution due to its potential for false-positive and false-negative results, underscoring the need for further studies to refine its diagnostic reliability.

摘要

黑素细胞性病变因其高度的形态学异质性,常常带来诊断挑战。虽然组织病理学检查仍是黑色素瘤诊断的金标准,但在一些不确定的病例中,也会使用诸如荧光杂交(FISH)等替代方法来辅助诊断。FISH是一种辅助诊断工具,可通过检测染色体异常来帮助区分痣和黑色素瘤。然而,其准确性受到假阳性和假阴性结果的限制。本研究通过分析18个先前根据皮肤镜和组织病理学标准分类为非典型痣或黑色素瘤的黑素细胞性病变中的染色体异常,评估了FISH在黑色素瘤诊断中的实用性和局限性。结果显示,FISH几乎确认所有非典型痣为良性病变(有一个病变除外);然而,它未能明确确认所有黑色素瘤。这些发现凸显了FISH的优点和缺点,表明虽然它是一种有用的辅助工具,但不应取代传统的组织病理学检查。相反,由于FISH存在假阳性和假阴性结果的可能性,应谨慎解读,这突出了进一步研究以提高其诊断可靠性的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b91/12035513/67af05bc73a7/etm-29-06-12868-g00.jpg

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