Introduction: Loss of BAP1 protein expression emerged as a negative prognostic marker in uveal melanoma (UM) and has primarily been studied in enucleations. Intraocular biopsy is frequently performed prior to UM globe-conserving therapy. Methods: We retrospectively evaluated BAP1 immunostaining of UM in 16 biopsies and 8 subsequent enucleations, and results were correlated with the UM-specific gene expression profile (GEP; n = 11), chromosome 3 status by FISH and/or chromosomal microarray (n = 12; 9 also had GEP), and clinical outcomes. Results: UM involved the choroid in 15 (of 16) cases. Biopsy was performed for prognostication (n = 12) or diagnosis (n = 4). Treatment included brachytherapy (n = 13; 5 followed by enucleation) or enucleation only (n = 3). BAP1 nuclear immunostaining was positive in 9, negative in 4, and equivocal in 3 biopsies. For the 3 equivocal biopsies, BAP1 immunostaining was positive in 2 (of 3) subsequent enucleations. BAP1 immunostaining was concordant between all 5 remaining biopsies and enucleations. BAP1-positive biopsies had disomy 3 (n = 6) or 3p loss (n = 1) and class 1 GEP (n = 6). BAP1-negative biopsies had monosomy 3 (n = 3) and class 2 GEP (n = 2). Median follow-up was 62.5 months (range, 17–150). For BAP1-positive UM patients, 8 were alive (7 without metastatic disease) and 3 had died (1 melanoma-related death). Among BAP1-negative UM patients, 2 were alive (1 with metastatic disease) and 3 had melanoma-related deaths. Conclusion: BAP1 immunostaining in biopsies highly correlates with results in subsequent enucleations and with well-established UM prognostic markers, representing a potential additional prognostic tool for UM biopsies.
Ocul Oncol Pathol

中文翻译：

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葡萄膜黑色素瘤眼内活检标本中的 BAP1 免疫染色状态与其他预后标志物高度相关

简介： BAP1 蛋白表达的丧失作为葡萄膜黑色素瘤 (UM) 的阴性预后标志物出现，并且主要在眼球摘除中进行了研究。眼内活检经常在 UM 保球治疗之前进行。方法：我们回顾性评估了 16 次活检和 8 次后续去核中 UM 的 BAP1 免疫染色，结果与 UM 特异性基因表达谱（GEP； n = 11）、FISH 和/或染色体微阵列的 3 号染色体状态相关（ n = 12; 9 也有 GEP）和临床结果。结果： UM 涉及 15 例（共 16 例）脉络膜。为预后（ n = 12）或诊断（ n= 4)。治疗包括近距离放射治疗（n = 13；5 之后是眼球摘除）或仅眼球摘除（n = 3）。BAP1 核免疫染色 9 例阳性，4 例阴性，3 例活检不明确。对于 3 次模棱两可的活检，BAP1 免疫染色在 2 次（共 3 次）随后的去核中呈阳性。BAP1 免疫染色在所有 5 个剩余的活检和去核之间是一致的。BAP1 阳性活检有二体 3 ( n = 6) 或 3p 丢失 ( n = 1) 和 1 类 GEP ( n = 6)。BAP1 阴性活检具有单体 3 ( n = 3) 和 2 类 GEP ( n= 2)。中位随访时间为 62.5 个月（范围 17-150）。对于 BAP1 阳性 UM 患者，8 人存活（7 人无转移性疾病），3 人死亡（1 人与黑色素瘤相关的死亡）。在 BAP1 阴性 UM 患者中，2 人存活（1 人患有转移性疾病），3 人因黑色素瘤而死亡。结论：活检中的 BAP1 免疫染色与随后的去核结果和公认的 UM 预后标志物高度相关，代表了 UM 活检潜在的额外预后工具。
眼肿瘤病理