BAP1 Loss on Immunocytochemistry and Its Association With Monosomy 3 in Uveal Melanoma Fine-Needle Aspirations.

IF 1 4区医学 Q4 MEDICAL LABORATORY TECHNOLOGY

Diagnostic Cytopathology Pub Date : 2025-06-17 DOI:10.1002/dc.25496

Precious Ann Fortes, Michelle Nguyen, Po Chu Fung, Erika F Rodriguez, Teresa H Kim, Kosuke Kawai, Neda A Moatamed

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引用次数: 0

Abstract

Background: Loss of nuclear BRCA1-associated protein 1 (nBAP1) expression is strongly linked to monosomy 3 in uveal melanoma. While fine-needle aspiration (FNA) aids diagnosis, the prognostic value of nBAP1 immunocytochemistry (ICC) is still being investigated. This study examines the correlation between nBAP1 loss on ICC and fluorescence in situ hybridization (FISH) findings, as well as its clinical impact.

Methods: Intraocular FNA cytology specimens with clinical concern for uveal melanoma from April 2015 to March 2023 with available nBAP1 ICC, FISH results, and clinical follow-up were examined. Two independent reviewers, blinded to the cytogenetic results, interpreted the nBAP1 ICC as either loss or retained. Statistical analysis using Fisher's exact test was utilized to evaluate the relationship between nBAP1 loss on ICC and FISH findings. Kaplan-Meier survival plots were constructed to examine the metastasis-free survival.

Results: Among the 79 cases included in the study, 86.1% (68/79) showed nBAP1 loss. Approximately 63.2% of patients with nBAP1 loss had monosomy 3, whereas none with nBAP1 retained had monosomy 3 (p < 0.001). Of the nBAP1 loss cases, 41.2% (28/68) had monosomy 3 alone, while 22.1% (15/68) had both monosomy 3 and 6p gain. Patients with nBAP1 loss had a significantly higher risk of metastasis (p ≤ 0.04), with a 5-year metastasis-free survival of 57.1% versus 100% in nBAP1 retained cases.

Conclusion: BAP1 ICC is a cost-effective prognostic tool in uveal melanoma FNAs, strongly correlating with monosomy 3 and poor outcomes. Integrating BAP1 ICC with FISH enhances risk stratification, enabling earlier identification of high-risk patients and guiding treatment decisions.

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葡萄膜黑色素瘤细针穿刺中BAP1免疫细胞化学缺失及其与单体3的关系

背景：在葡萄膜黑色素瘤中，细胞核brca1相关蛋白1 （nBAP1）表达的缺失与单体3密切相关。虽然细针穿刺（FNA）有助于诊断，但nBAP1免疫细胞化学（ICC）的预后价值仍在研究中。本研究探讨了ICC上nBAP1缺失与荧光原位杂交（FISH）结果之间的相关性及其临床影响。方法：对2015年4月至2023年3月临床关注的葡萄膜黑色素瘤眼内FNA细胞学标本、现有的nBAP1 ICC、FISH结果及临床随访进行分析。两名独立审核员对细胞遗传学结果不知情，将nBAP1 ICC解释为缺失或保留。采用Fisher精确检验进行统计分析，评估ICC上nBAP1丢失与FISH结果之间的关系。构建Kaplan-Meier生存图来检查无转移生存。结果：纳入研究的79例患者中，86.1%（68/79）出现nBAP1丢失。大约63.2%的nBAP1丢失患者有3号单体，而保留nBAP1的患者没有3号单体(p)结论：BAP1 ICC是葡萄膜黑色素瘤FNAs中具有成本效益的预后工具，与3号单体和不良预后密切相关。将BAP1 ICC与FISH结合可以增强风险分层，从而能够更早地识别高危患者并指导治疗决策。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Diagnostic Cytopathology 医学-病理学

CiteScore

2.60

自引率

7.70%

发文量

163

审稿时长

3-6 weeks

期刊介绍： Diagnostic Cytopathology is intended to provide a forum for the exchange of information in the field of cytopathology, with special emphasis on the practical, clinical aspects of the discipline. The editors invite original scientific articles, as well as special review articles, feature articles, and letters to the editor, from laboratory professionals engaged in the practice of cytopathology. Manuscripts are accepted for publication on the basis of scientific merit, practical significance, and suitability for publication in a journal dedicated to this discipline. Original articles can be considered only with the understanding that they have never been published before and that they have not been submitted for simultaneous review to another publication.