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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.

DOI:10.3892/etm.2025.12868
PMID:40297620
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12035513/
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/0b91/12035513/25e6ad27c88f/etm-29-06-12868-g08.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b91/12035513/67af05bc73a7/etm-29-06-12868-g00.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b91/12035513/65259850c876/etm-29-06-12868-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b91/12035513/46027fc103cc/etm-29-06-12868-g02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b91/12035513/32dcc3d21c5d/etm-29-06-12868-g03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b91/12035513/ac6742f9068e/etm-29-06-12868-g04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b91/12035513/766b2e64a9ee/etm-29-06-12868-g05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b91/12035513/876720f5cc7c/etm-29-06-12868-g06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b91/12035513/3a336dc78cd9/etm-29-06-12868-g07.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b91/12035513/25e6ad27c88f/etm-29-06-12868-g08.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b91/12035513/67af05bc73a7/etm-29-06-12868-g00.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b91/12035513/65259850c876/etm-29-06-12868-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b91/12035513/46027fc103cc/etm-29-06-12868-g02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b91/12035513/32dcc3d21c5d/etm-29-06-12868-g03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b91/12035513/ac6742f9068e/etm-29-06-12868-g04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b91/12035513/766b2e64a9ee/etm-29-06-12868-g05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b91/12035513/876720f5cc7c/etm-29-06-12868-g06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b91/12035513/3a336dc78cd9/etm-29-06-12868-g07.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b91/12035513/25e6ad27c88f/etm-29-06-12868-g08.jpg

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本文引用的文献

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Life (Basel). 2023 Feb 9;13(2):477. doi: 10.3390/life13020477.
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Review: The Key Factors to Melanomagenesis.综述:黑色素瘤发生的关键因素。
Life (Basel). 2023 Jan 8;13(1):181. doi: 10.3390/life13010181.
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Fluorescent in situ hybridization (FISH): A useful diagnostic tool for childhood conjunctival melanoma.荧光原位杂交(FISH):一种用于儿童结膜黑色素瘤的有用诊断工具。
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Four-color fluorescence in-situ hybridization is useful to assist to distinguish early stage acral and cutaneous melanomas from dysplastic junctional or compound nevus.四色荧光原位杂交有助于辅助区分早期肢端和皮肤黑素瘤与异型性交界痣或复合痣。
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Use of Fluorescence In Situ Hybridization (FISH) in Diagnosis and Tailored Therapies in Solid Tumors.荧光原位杂交(FISH)在实体瘤诊断和靶向治疗中的应用。
Molecules. 2020 Apr 17;25(8):1864. doi: 10.3390/molecules25081864.
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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.通过看镜子和你在那里发现的东西:理解比较基因组杂交和荧光原位杂交在黑色素瘤诊断中的应用。
Mod Pathol. 2020 Jul;33(7):1318-1330. doi: 10.1038/s41379-020-0490-7. Epub 2020 Feb 17.
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The eighth edition American Joint Committee on Cancer (AJCC) melanoma staging system: implications for melanoma treatment and care.第八版美国癌症联合委员会(AJCC)黑色素瘤分期系统:对黑色素瘤治疗和护理的影响。
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