St Paul's Eye Unit, Oncology Service, Royal Liverpool University Hospital, Liverpool, UK.
Graefes Arch Clin Exp Ophthalmol. 2010 May;248(5):747-9. doi: 10.1007/s00417-009-1295-z. Epub 2010 Feb 9.
To report a choroidal melanoma in a 7-year-old child treated by trans-scleral local resection and adjuvant brachytherapy with a family history of neurofibromatosis type I (NF1) and cutaneous melanoma.
A 7-year-old child was referred for treatment of a choroidal tumor in her left eye with a differential diagnosis of melanoma, neurilemmoma, leiomyoma, and neurofibroma. Trans-scleral local resection and, subsequently, adjuvant brachytherapy were performed.
Histopathology and immunohistochemistry of the specimen diagnosed an amelanotic melanoma of spindle cell type, with a moderately high number of mitoses (7/40 HPF). Multiplex ligation-dependent probe amplification (MLPA) analysis showed two copies of chromosome 3, three copies of the short arm of chromosome 6, and two copies of chromosome 8, strongly suggesting a good prognosis. Postoperative ophthalmic evaluation at 6 months showed no visible tumor and flat retina with visual acuity (VA) of 6/60.
Trans-scleral local resection with adjuvant brachytherapy in children is possible using the same techniques as for adults. Although the follow-up is short, our patient retained the eye with good vision and our cytogenetic studies allowed us to reassure the mother.
报告一例 7 岁儿童脉络膜黑色素瘤，该患儿有神经纤维瘤病 I 型（NF1）和皮肤黑色素瘤家族史，接受经巩膜局部切除术和辅助近距离放射治疗。
一名 7 岁儿童因左眼脉络膜肿瘤就诊，鉴别诊断包括黑色素瘤、神经鞘瘤、平滑肌瘤和神经纤维瘤。行经巩膜局部切除术，随后行辅助近距离放射治疗。
标本的组织病理学和免疫组织化学诊断为中度高有丝分裂（7/40 HPF）的梭形细胞型无黑色素性黑色素瘤。多重连接依赖性探针扩增（MLPA）分析显示 3 号染色体有两份拷贝，6 号染色体短臂有三份拷贝，8 号染色体有两份拷贝，强烈提示预后良好。术后 6 个月的眼部评估显示无可见肿瘤和视网膜扁平，视力（VA）为 6/60。
儿童经巩膜局部切除术联合辅助近距离放射治疗可以使用与成人相同的技术。尽管随访时间较短，但我们的患者保留了视力良好的眼睛，我们的细胞遗传学研究使我们能够使母亲安心。
