Diagnosis of occult melanoma using transient receptor potential melastatin 1 (TRPM1) autoantibody testing: a novel approach.
Diagnosis of occult melanoma using transient receptor potential melastatin 1 (TRPM1) autoantibody testing: a novel approach.
复制标题
使用瞬时受体电位褪黑素 1 (TRPM1) 自身抗体测试诊断隐匿性黑色素瘤：一种新方法。
DOI：
10.1016/j.ophtha.2013.07.037
复制
发表时间：
2013
期刊：
影响因子：
13.7
通讯作者：
Sen,HNida
中科院分区：
文献类型：
--
作者：
Dalal,MonicaD;Morgans,CatherineW;Duvoisin,RobertM;Gamboa,ElizabethA;Jeffrey,BrettG;Garg,SunirJ;Chan,Chi-Chao;Sen,HNida
目的报告第一例基于血清瞬时受体潜能美拉他汀1 （TRPM1）自身抗体诊断的黑色素瘤相关视网膜病变（MAR）和潜在的隐性黑色素瘤。设计介入病例报告与基础科学相关。参与者1例mar患者干预检测血清TRPM1自身抗体的存在。主要结局指标：根据患者血清中TRPM1自身抗体的存在，诊断隐匿性黑色素瘤累及腋窝淋巴结（原发部位未知）和MAR。结果患者临床表现为双眼轻度眼内炎症及视网膜出血，左眼脉络膜新生血管明显形成，经荧光素血管造影及吲哚菁绿血管造影证实。Humphrey视野30-2 SITA-fast （Humphrey视野分析仪，Carl Zeiss Meditec, Inc, Dublin， CA）显示双眼弥漫性凹陷与临床检查不成比例，促使视网膜电图测试显示电负性反应。视锥细胞介导的暗适应阈值明显升高。由于对MAR的担忧，初级保健医生对黑色素瘤进行了系统检查，但没有透露。鉴于我们对MAR的持续临床怀疑，将患者的血清送去评估TRPM1自身抗体。患者血清应用于正常人视网膜，在内核层呈阳性。将患者血清应用于野生型和TRPM1敲除小鼠视网膜，发现野生型视网膜中有强烈标记的双极细胞，而TRPM1敲除小鼠视网膜中没有，表明TRPM1依赖性免疫反应性。通过标记TRPM1转染的人胚胎肾293细胞，证实抗原为TRPM1。这一发现提示了进一步的全身检查，结果发现了一种隐匿性转移性黑色素瘤，涉及腋窝淋巴结，原发部位未知。患者接受手术切除隐匿性黑色素瘤，但没有发现其他部位转移的证据。他还接受了静脉注射免疫球蛋白治疗，视力已经稳定下来。结论：这是第一例利用血清TRPM1自身抗体检测的创新方法诊断黑色素瘤相关视网膜病变的报道。财务披露在参考文献之后可能会发现专有或商业披露。
PurposeTo report the first case of melanoma-associated retinopathy (MAR) and underlying occult melanoma diagnosed based on the presence of serum transient receptor potential melastatin 1 (TRPM1) autoantibodies.DesignInterventional case report with basic science correlation.ParticipantsOne patient with MAR.InterventionTesting for the presence of serum TRPM1 autoantibodies.Main Outcome MeasuresDiagnosis of an occult melanoma involving the axillary lymph nodes (unknown primary site) and MAR based on the presence of TRPM1 autoantibodies in the patient's serum.ResultsThe patient's clinical exam was remarkable for mild intraocular inflammation in both eyes and retinal hemorrhages with an apparent choroidal neovascularization in the left eye, which was confirmed by fluorescein angiography and indocyanine green angiography testing. Humphrey visual field 30-2 SITA-fast (Humphrey Visual Field Analyzer, Carl Zeiss Meditec, Inc, Dublin, CA) demonstrated diffuse depression in both eyes out of proportion to the clinical exams, prompting electroretinography testing that revealed an electronegative response. Dark-adapted thresholds were markedly elevated and mediated by cones. Due to concern for MAR, a systemic work-up for melanoma was performed by the primary care physician that was unrevealing. Given our continued clinical suspicion for MAR, the patient's serum was sent for evaluation for TRPM1 autoantibodies. The patient's serum applied to normal human retina exhibited positivity in the inner nuclear layer. Application of the patient's serum to wild-type and TRPM1 knockout mouse retina revealed strongly labeled bipolar cells in the wild-type retina, but not in the TRPM1 knockout retina, indicating TRPM1-dependent immunoreactivity. The antigen was confirmed as TRPM1 by labeling of TRPM1-transfected human embryonic kidney 293 cells. Additional systemic work-up prompted by this finding resulted in identification of an occult metastatic melanoma involving the axillary lymph nodes with an unknown primary site. The patient underwent surgical excision of the occult melanoma without evidence of other sites of metastases. He also received intravenous immunoglobulin therapy and his vision has stabilized.ConclusionsThis is the first reported case of a melanoma-associated retinopathy diagnosed utilizing the innovative approach of testing for serum TRPM1 autoantibodies.Financial Disclosure(s)Proprietary or commercial disclosure may be found after the references.