一名携带种系BRCA相关蛋白1突变患者的多灶性脉络膜黑色素瘤
MULTIFOCAL CHOROIDAL MELANOMA IN A PATIENT WITH GERM LINE BRCA-ASSOCIATED PROTEIN 1 MUTATION.
作者信息
Rao Raksha, Pointdujour-Lim Renelle, Ganguly Arupa, Shields Carol L
机构信息
Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania.
Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania.
出版信息
Retin Cases Brief Rep. 2018;12(1):1-4. doi: 10.1097/ICB.0000000000000432.
PURPOSE
To report a case of unilateral multifocal melanoma in a patient with germ line BRCA-associated protein 1 mutation.
METHODS
Case report.
RESULTS
A 67-year-old white woman with a family history of lung and liver cancers developed blurred visual acuity of 20/30 in the left eye. She was discovered to have two independent pigmented choroidal melanomas in the macula and superotemporally, both demonstrating overlying subretinal fluid and orange pigment. Both melanomas were treated with a single custom-designed Iodine 125 brachytherapy device. Upon systemic evaluation, asymptomatic renal cell carcinoma was found, and blood lymphocyte testing for germ line BRCA-associated protein 1 mutation was positive.
CONCLUSION
Multifocal choroidal melanoma is exceedingly rare. Patients with uveal melanoma, especially if multifocal, and those with other systemic malignancy or family history of cancers should be tested for germ line BRCA-associated protein 1 mutation. Lifelong monitoring for other systemic malignancies is advised.
目的
报告1例携带种系BRCA相关蛋白1突变患者发生单侧多灶性黑色素瘤的病例。
方法
病例报告。
结果
一名67岁有肺癌和肝癌家族史的白人女性，左眼视力模糊至20/30。她被发现黄斑区和颞上象限有两个独立的色素性脉络膜黑色素瘤，均显示视网膜下液和橙色色素。两个黑色素瘤均采用单个定制的碘125近距离放疗装置进行治疗。经全身评估，发现无症状肾细胞癌，血液淋巴细胞种系BRCA相关蛋白1突变检测呈阳性。
结论
多灶性脉络膜黑色素瘤极为罕见。葡萄膜黑色素瘤患者，尤其是多灶性患者，以及患有其他全身恶性肿瘤或有癌症家族史的患者，应检测种系BRCA相关蛋白1突变。建议对其他全身恶性肿瘤进行终身监测。
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