Spectrum of presentation of intraocular metastases from cutaneous melanoma in the era of immunotherapy and targeted therapies

IF 3.2 3区 医学 Q1 OPHTHALMOLOGY Eye Pub Date : 2025-03-25 DOI:10.1038/s41433-025-03753-x
Stéphanie Lemaître, Amit K. Arora, Gordon Robert Hay, Mandeep S. Sagoo
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Abstract

Intraocular metastases from cutaneous melanoma are rare. Diagnosis can be challenging and there is currently no consensus on treatment. However, with the increasing incidence of this cancer and improved survival of patients treated with targeted BRAF-MEK inhibitors and checkpoint inhibitors, it is likely that more cases will be referred to ocular oncology clinics. Single-centre retrospective study. We included all the patients diagnosed with intraocular metastases from cutaneous melanoma seen between 2017 and 2022. The first patient had bilateral choroidal metastases and unilateral vitreous cells (treated with external beam radiotherapy and immunotherapy), the second had unilateral amelanotic vitreous metastasis (treated with vitrectomy and BRAF-MEK inhibitors) and the third had bilateral multifocal choroidal metastases (treated with BRAK-MEK inhibitors followed by immunotherapy). The fourth patient (previously reported) had unilateral anterior segment and vitreous metastases (treated with immunotherapy and enucleation). Interestingly, two patients had a history of uveitis in the affected eye, unrelated to the ocular metastases. All four patients had synchronous systemic metastases. The diagnosis of intraocular metastases from cutaneous melanoma is generally clinical but it is sometimes challenging because of possible masquerade syndromes. The presence of other extraocular metastatic sites is an indicator of the diagnosis. Cytopathologic proof combined with genetic analysis is sometimes necessary for diagnosis, especially with amelanotic vitreous debris or in rare cases where systemic screening is negative. New treatments with targeted BRAF-MEK inhibitors and checkpoint inhibition may avoid external beam radiotherapy and enucleation in some patients.

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免疫治疗和靶向治疗时代皮肤黑色素瘤眼内转移的表现谱。
背景:皮肤黑色素瘤的眼内转移是罕见的。诊断可能具有挑战性,目前对治疗没有共识。然而,随着这种癌症发病率的增加以及接受靶向BRAF-MEK抑制剂和检查点抑制剂治疗的患者生存率的提高,可能会有更多的病例被转诊到眼科肿瘤诊所。对象:单中心回顾性研究。我们纳入了2017年至2022年间所有被诊断为皮肤黑色素瘤眼内转移的患者。结果:1例患者为双侧脉络膜转移伴单侧玻璃体细胞(行外束放疗+免疫治疗),2例患者为单侧无瘤性玻璃体转移(行玻璃体切除术+ BRAF-MEK抑制剂治疗),3例患者为双侧多灶性脉络膜转移(行BRAK-MEK抑制剂+免疫治疗)。第4例患者(先前报道)单侧前段和玻璃体转移(经免疫治疗和去核治疗)。有趣的是,两名患者在受影响的眼睛有葡萄膜炎病史,与眼部转移无关。所有4例患者均有同步全身转移。结论:皮肤黑色素瘤眼内转移的诊断通常是临床的,但有时由于可能的假面综合征而具有挑战性。其他眼外转移部位的存在是诊断的一个指标。细胞病理学证据结合遗传分析有时是必要的诊断,特别是无色素玻璃体碎片或在罕见的情况下,系统筛查是阴性的。靶向BRAF-MEK抑制剂和检查点抑制的新疗法可以避免一些患者的外束放疗和去核。
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来源期刊
Eye
Eye 医学-眼科学
CiteScore
6.40
自引率
5.10%
发文量
481
审稿时长
3-6 weeks
期刊介绍: Eye seeks to provide the international practising ophthalmologist with high quality articles, of academic rigour, on the latest global clinical and laboratory based research. Its core aim is to advance the science and practice of ophthalmology with the latest clinical- and scientific-based research. Whilst principally aimed at the practising clinician, the journal contains material of interest to a wider readership including optometrists, orthoptists, other health care professionals and research workers in all aspects of the field of visual science worldwide. Eye is the official journal of The Royal College of Ophthalmologists. Eye encourages the submission of original articles covering all aspects of ophthalmology including: external eye disease; oculo-plastic surgery; orbital and lacrimal disease; ocular surface and corneal disorders; paediatric ophthalmology and strabismus; glaucoma; medical and surgical retina; neuro-ophthalmology; cataract and refractive surgery; ocular oncology; ophthalmic pathology; ophthalmic genetics.
期刊最新文献
Correction: The ophthalmologist's guide to clinical practice guidelines: the GRADE evidence-to-decision frameworks and GRADE-adolopment. Growth hormone therapy and ocular biometry in paediatric growth hormone deficiency: a systematic review and meta-analysis. Investigation of 3D choroidal components in myopic populations using ultra-widefield OCTA. Developmental anatomy of the lacrimal sac fossa and nasolacrimal canal: a CT study of paediatric patients. Comment on: 'Thyroid eye disease and steroid therapy: risk stratification for bone health'.
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